SCN1B

Summary

SCN1B (sodium voltage-gated channel beta subunit 1, HGNC:10586) is a protein-coding gene on chromosome 19q13.11, encoding Sodium channel regulatory subunit beta-1 (Q07699). Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes.

Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6324 — RefSeq curated summary.

At a glance

• Gene–disease (curated): generalized epilepsy with febrile seizures plus (Definitive, ClinGen) — +8 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 702 total — 27 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 148
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001037

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10586
Approved symbol	SCN1B
Name	sodium voltage-gated channel beta subunit 1
Location	19q13.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000105711
Ensembl biotype	protein_coding
OMIM	600235
Entrez	6324

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000262631, ENST00000415950, ENST00000595652, ENST00000596348, ENST00000602150, ENST00000638536, ENST00000639260, ENST00000640135, ENST00000675741, ENST00000676410, ENST00000955983

RefSeq mRNA: 3 — MANE Select: NM_001037 NM_001037, NM_001321605, NM_199037

CCDS: CCDS12441, CCDS46047, CCDS86744

Canonical transcript exons

ENST00000262631 — 6 exons

Exon	Start	End
ENSE00000862735	35039635	35039706
ENSE00000862736	35039797	35040449
ENSE00001254304	35039117	35039258
ENSE00003501372	35033499	35033739
ENSE00003557397	35032528	35032694
ENSE00003806938	35030470	35030860

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 99.43.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.9798 / max 458.3845, expressed in 1337 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175184	5.3467	1073
175186	1.6628	595
175189	1.5350	436
175191	0.9853	217
175188	0.3910	163
175185	0.3474	139
175183	0.3367	177
175190	0.1557	53
175187	0.1410	68
175192	0.0783	32

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primary visual cortex	UBERON:0002436	99.43	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.29	gold quality
cerebellum	UBERON:0002037	99.21	gold quality
cerebellar cortex	UBERON:0002129	99.21	gold quality
cerebellar hemisphere	UBERON:0002245	99.21	gold quality
gastrocnemius	UBERON:0001388	99.13	gold quality
right frontal lobe	UBERON:0002810	98.50	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.46	gold quality
skeletal muscle tissue	UBERON:0001134	98.20	gold quality
muscle of leg	UBERON:0001383	98.16	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.15	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.92	gold quality
frontal cortex	UBERON:0001870	97.72	gold quality
superior frontal gyrus	UBERON:0002661	97.56	gold quality
prefrontal cortex	UBERON:0000451	97.17	gold quality
cerebral cortex	UBERON:0000956	96.59	gold quality
putamen	UBERON:0001874	96.43	gold quality
right atrium auricular region	UBERON:0006631	96.29	gold quality
anterior cingulate cortex	UBERON:0009835	96.14	gold quality
caudate nucleus	UBERON:0001873	95.26	gold quality
Ammon’s horn	UBERON:0001954	94.85	gold quality
substantia nigra	UBERON:0002038	94.70	gold quality
brain	UBERON:0000955	94.69	gold quality
apex of heart	UBERON:0002098	94.16	gold quality
nucleus accumbens	UBERON:0001882	93.14	gold quality
temporal lobe	UBERON:0001871	93.10	gold quality
amygdala	UBERON:0001876	93.06	gold quality
muscle tissue	UBERON:0002385	92.84	gold quality
heart left ventricle	UBERON:0002084	92.61	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.56	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.33
E-CURD-112	no	3.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting SCN1B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-606	98.72	67.34	960
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-924	97.78	66.21	681
HSA-MIR-296-5P	97.61	64.02	851
HSA-MIR-6787-5P	97.54	63.85	457
HSA-MIR-4313	97.18	63.15	420
HSA-MIR-1913	97.07	66.20	1417
HSA-MIR-6773-5P	97.04	64.30	595
HSA-MIR-5591-3P	96.23	67.03	489
HSA-MIR-6815-5P	96.05	65.55	662
HSA-MIR-6865-5P	96.05	65.58	675
HSA-MIR-10396B-5P	94.99	63.57	358
HSA-MIR-744-5P	93.78	65.29	230

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Mutation of the sodium channel subunit SCN1B linked again to generalized epilepsy with febrile seizures (PMID:12011299)
• Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. (PMID:12486163)
• the expression of NaCh beta1 subunit protein in astrocytes is plastic, and indicate a novel mechanism for modulation of glial function in gliosis-associated pathologies. (PMID:12677453)
• The IVS2-2A>C transition deletes AA 70-74 in the central hydrophobic core of the extracellular Ig domain, disrupting the hydrophobic interaction in the Ig-like fold & proper [beta]1 folding & causing a persistent inward Na+ current & hyperexcitability. (PMID:14504340)
• identification and characterization of a novel splicing variant; functional studies in oocytes demonstrate that the beta1B subunit increases the ionic current when coexpressed with the tetrodotoxin sensitive channel, NaV1.2 (PMID:14622265)
• Although data suggest that SCN1B activity does not directly influence membrane potential, intracellular Ca(2+) release, or proliferation in normal human pulmonary artery smooth muscle cells, its physiological functions remain unresolved. (PMID:16052353)
• Use of these Na+ channel models in simple neuron models revealed that both mutations(R85C, R85H) cause an increase in excitability but the R85H mutation was more excitable. (PMID:17604911)
• In summary, the mutant beta1 subunits essentially fail to modulate alpha subunits which could increase neuronal excitability and underlie GEFS+ pathogenesis. (PMID:17629415)
• This suggests that mutations in the SCN1B gene is not a prevalent cause of familial cases of FS and epilepsy or GEFS+ in Scandinavia. (PMID:17927801)
• SCN1B mutations were not found to directly cause long QT syndrome. (PMID:18052691)
• In patient with epilepsy were carried the mutation (C121W) of SCN1B. (PMID:18093548)
• Febrile Seizure is not related to the most common mutations of SCN1B in two Tunisian families (PMID:18175077)
• SCN1B may have a role in human arrhythmia susceptibility (PMID:18464934)
• The data of this study suggested that SCN1B p.R125C is an autosomal recessive cause of Dravet syndrome through functional gene inactivation. (PMID:19710327)
• Loss of function mutations in sodium channel beta-subunits were identified in patients with atrial fibrillation and were associated with a distinctive ECG phenotype (PMID:19808477)
• Enhanced tubulin polymerization reduces sarcolemmal Na(v)1.5 expression and I(Na) amplitude in a beta1-subunit-independent fashion and causes I(Na) fast and slow inactivation impairment in a beta1-subunit-dependent way (PMID:19861310)
• The IVS3+ 2996(TTA)8 allele in SCN1B commonly seen in Japanese would not be pathogenic itself but may render male, middle-aged Japanese more susceptible to Brugada syndrome (PMID:20137763)
• SCN1B is the gene responsible in one out of six Tunisian families with febrile seizures (FS) that may contribute susceptibility for the five others. (PMID:21040232)
• This study demonstrated that SCN1B may not be related to the occurrence of benign partial epilepsy in infancy or convulsions with gastroenteritis. (PMID:21882141)
• The results suggested that beta1B p.G257R may contribute to epilepsy through a mechanism that includes intracellular retention resulting in aberrant neuronal pathfinding. (PMID:21994374)
• Mutation analysis of the SCN1B, SCN1A and GABRG2 genes in children affected by Genetic (Generalised) Epilepsy with Febrile Seizures plus was performed (PMID:22011963)
• results suggest that R214Q variation in SCN1Bb is a functional polymorphism that may serve as a modifier of the substrate responsible for Brugada syndrome or SIDS phenotypes (PMID:22155597)
• Our study supports the association of SCN1Bb with BrS. (PMID:22284586)
• A novel seizure-causing mechanism is suggested for NaV1.2beta1 in patients harboring mutant C121W subunit: increased channel excitability at elevated temperature. (PMID:22292491)
• SCN1B mutation is not a common cause of Dravet syndrome. (PMID:23182416)
• sodium channel polymorphisms are associated with epilepsy (PMID:24337656)
• experimental data indicate that sodium channel voltage-gated type I beta subunit (Navbeta1b)/H162P results in reduced sodium channel activity functionally affecting the ventricular action potential. (PMID:24561865)
• Hippocampal networks of a NaV beta1 transgenic mouse model of genetic epilepsy show enhanced excitability. (PMID:24605816)
• data revealed SCN1Bb as a susceptibility gene responsible for LQTS (PMID:24662403)
• High SCN1B expression is associated with increased tumour growth and metastasis in breast cancer. (PMID:24729314)
• Study showed that the human SCN1B C121W epilepsy mutation leads to decreased axon initial segments expression of SCN1B in heterozygous CW mice and a complete lack of SCN1B in homozygous WW mice (PMID:25421039)
• In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes. (PMID:25757662)
• SCN1B gene mutations that reduce sodium channel current may provide a mechanistic link between Atrioventricular nodal reentrant tachycardia and Brugada syndrome and predispose to expression of both phenotypes. (PMID:25998140)
• We also identified an SCN1B T189M variant in 2 probands with lone AF and in 1 of 250 control subjects. (PMID:26129877)
• Contribution of Cardiac Sodium Channel beta-Subunit Variants to Brugada Syndrome. (PMID:26179811)
• we confirm the recessive inheritance of 2 novel SCN1B mutations in 5 children from 3 families with developmental epileptic encephalopathy. The recessive inheritance and early death in these patients is consistent with the Dravet-like phenotype observed in Scn1b(-/-) mice. (PMID:28218389)
• This report provides the first genetic evidence of SCN1B mutation causing the Benign Familial Infantile Epilepsy (BFIE) phenotype. (PMID:28566192)
• Genetic analysis was suggestive of SCN1B gene mutation associated with Dravet syndrome (PMID:28681755)
• results show that the primary defect of E87Q mutation of the beta1 subunit is to compromise the correct voltage gated sodium channel maturation and traffic (PMID:28878239)
• The lack of genotype-phenotype concordance among families, combined with the high frequency of previously reported mutations in the Genome Aggregation Database browser, suggests that SCN1B is not a monogenic cause of BrS or SADS. (PMID:29758173)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	scn1ba	ENSDARG00000060222
danio_rerio	si:ch211-225p5.8	ENSDARG00000070170
danio_rerio	scn1bb	ENSDARG00000105003
mus_musculus	Scn1b	ENSMUSG00000019194
rattus_norvegicus	Scn1b	ENSRNOG00000021102

Paralogs (1): SCN3B (ENSG00000166257)

Protein

Protein identifiers

Sodium channel regulatory subunit beta-1 — Q07699 (reviewed: Q07699)

All UniProt accessions (6): Q07699, A0A1W2PR05, A0A1W2PS68, A0A6Q8PGS1, A0A6Q8PHF7, B4DI92

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues. The accessory beta subunits participate in localization and functional modulation of the Nav channels. Modulates the activity of SCN1A/Nav1.1, SCN2A/Nav1.2, SCN3A/Nav1.3, SCN4A/Nav1.4, SCN5A/Nav1.5, SCN8A/Nav1.6, SCN9A/Nav1.7 and SCN10A/Nav1.8. Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth. Has no regulatory function on the SCN2A sodium channel complex.

Subunit / interactions. Voltage-gated sodium (Nav) channel consists of an ion-conducting pore-forming alpha subunit functional on its own that is regulated by one or more beta subunits. Interacts with SCN1A; regulatory subunit of SCN1A/Nav1.1. Interacts with SCN3A; regulatory subunit of SCN3A/Nav1.3. Interacts with SCN4A; regulatory subunit of SCN4A/Nav1.4. Interacts with SCN5A; regulatory subunit of SCN5A/Nav1.5. Interacts with SCN8A; regulatory subunit of SCN8A/Nav1.6. Interacts with SCN9A; regulatory subunit of SCN9A/Nav1.7. Interacts with SCN10A; regulatory subunit of SCN10A/Nav1.8. Interacts with NFASC. Interacts with TMEM65.

Subcellular location. Cell membrane. Perikaryon. Cell projection. Axon Perikaryon. Secreted.

Tissue specificity. The overall expression of isoform 1 and isoform 2 is very similar. Isoform 1 is abundantly expressed in skeletal muscle, heart and brain. Isoform 2 is highly expressed in brain and skeletal muscle and present at a very low level in heart, placenta, lung, liver, kidney and pancreas. In brain, isoform 2 is most abundant in the cerebellum, followed by the cerebral cortex and occipital lobe, while isoform 1 levels are higher in the cortex compared to the cerebellum. Isoform 2 is expressed in many regions of the brain, including cerebellar Purkinje cells, cortex pyramidal neurons and many of the neuronal fibers throughout the brain (at protein level). Also detected in dorsal root ganglion, in fibers of the spinal nerve and in cortical neurons and their processes (at protein level).

Disease relevance. Generalized epilepsy with febrile seizures plus 1 (GEFSP1) [MIM:604233] A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. The disease is caused by variants affecting the gene represented in this entry. Brugada syndrome 5 (BRGDA5) [MIM:612838] A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. The gene represented in this entry may be involved in disease pathogenesis. Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377] A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. The disease is caused by variants affecting the gene represented in this entry. Developmental and epileptic encephalopathy 52 (DEE52) [MIM:617350] A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE52 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Due to intron 3 retention.

Similarity. Belongs to the sodium channel auxiliary subunit SCN1B (TC 8.A.17) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q07699-1	1, Beta-1	yes
Q07699-2	2, Beta-1B, beta1A, beta1B

RefSeq proteins (3): NP_001028, NP_001308534, NP_950238 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR027098	Na_channel_b1/b3	Family
IPR036179	Ig-like_dom_sf	Homologous_superfamily

Pfam: PF07686

UniProt features (42 total): strand 13, sequence variant 12, glycosylation site 4, helix 3, disulfide bond 2, topological domain 2, signal peptide 1, chain 1, splice variant 1, transmembrane region 1, turn 1, domain 1

Structure

Experimental structures (PDB)

39 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
7W9K	ELECTRON MICROSCOPY	2.2
25II	ELECTRON MICROSCOPY	2.5
8I5Y	ELECTRON MICROSCOPY	2.6
21TQ	ELECTRON MICROSCOPY	2.7
7XVE	ELECTRON MICROSCOPY	2.7
8I5B	ELECTRON MICROSCOPY	2.7
8I5G	ELECTRON MICROSCOPY	2.7
8THH	ELECTRON MICROSCOPY	2.7
25IH	ELECTRON MICROSCOPY	2.8
7XVF	ELECTRON MICROSCOPY	2.8
8G1A	ELECTRON MICROSCOPY	2.8
8XMM	ELECTRON MICROSCOPY	2.89
7W9P	ELECTRON MICROSCOPY	2.9
8I5X	ELECTRON MICROSCOPY	2.9
8S9B	ELECTRON MICROSCOPY	2.9
8THG	ELECTRON MICROSCOPY	2.9
9DK5	ELECTRON MICROSCOPY	2.9
21TP	ELECTRON MICROSCOPY	3
7W9M	ELECTRON MICROSCOPY	3
7W9T	ELECTRON MICROSCOPY	3
8J4F	ELECTRON MICROSCOPY	3
7XMF	ELECTRON MICROSCOPY	3.07
7XMG	ELECTRON MICROSCOPY	3.09
25IJ	ELECTRON MICROSCOPY	3.1
8FHD	ELECTRON MICROSCOPY	3.1
6AGF	ELECTRON MICROSCOPY	3.2
6J8G	ELECTRON MICROSCOPY	3.2
6J8H	ELECTRON MICROSCOPY	3.2
6J8I	ELECTRON MICROSCOPY	3.2
6J8J	ELECTRON MICROSCOPY	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q07699-F1	87.90	0.68

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (2): 21–43, 40–121

Glycosylation sites (4): 93, 110, 114, 135

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-445095	Interaction between L1 and Ankyrins
R-HSA-5576892	Phase 0 - rapid depolarisation
R-HSA-9717207	Sensory perception of sweet, bitter, and umami (glutamate) taste
R-HSA-1266738	Developmental Biology
R-HSA-373760	L1CAM interactions
R-HSA-397014	Muscle contraction
R-HSA-422475	Axon guidance
R-HSA-5576891	Cardiac conduction
R-HSA-9675108	Nervous system development
R-HSA-9709957	Sensory Perception
R-HSA-9717189	Sensory perception of taste

MSigDB gene sets: 531 (showing top): GOBP_MEMBRANE_DEPOLARIZATION, MODULE_274, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATION_CHANNEL_ACTIVITY, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_MEMBRANE_DEPOLARIZATION_DURING_ACTION_POTENTIAL, GOBP_POSITIVE_REGULATION_OF_TRANSPORTER_ACTIVITY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_UP, GOBP_NEUROGENESIS, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, TAL1ALPHAE47_01

GO Biological Process (25): cell adhesion (GO:0007155), axon guidance (GO:0007411), positive regulation of sodium ion transport (GO:0010765), positive regulation of neuron projection development (GO:0010976), neuronal action potential propagation (GO:0019227), corticospinal neuron axon guidance (GO:0021966), sodium ion transmembrane transport (GO:0035725), locomotion (GO:0040011), membrane depolarization (GO:0051899), cardiac muscle contraction (GO:0060048), regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307), regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371), cardiac conduction (GO:0061337), cardiac muscle cell action potential involved in contraction (GO:0086002), membrane depolarization during action potential (GO:0086010), membrane depolarization during cardiac muscle cell action potential (GO:0086012), membrane depolarization during Purkinje myocyte cell action potential (GO:0086047), regulation of heart rate by cardiac conduction (GO:0086091), regulation of sodium ion transmembrane transport (GO:1902305), positive regulation of voltage-gated sodium channel activity (GO:1905152), regulation of sodium ion transport (GO:0002028), monoatomic ion transport (GO:0006811), sodium ion transport (GO:0006814), neuron projection development (GO:0031175), monoatomic ion transmembrane transport (GO:0034220)

GO Molecular Function (4): sodium channel regulator activity (GO:0017080), sodium channel inhibitor activity (GO:0019871), transmembrane transporter binding (GO:0044325), protein binding (GO:0005515)

GO Cellular Component (11): voltage-gated sodium channel complex (GO:0001518), extracellular region (GO:0005576), plasma membrane (GO:0005886), intercalated disc (GO:0014704), T-tubule (GO:0030315), node of Ranvier (GO:0033268), perikaryon (GO:0043204), membrane (GO:0016020), axon (GO:0030424), sodium channel complex (GO:0034706), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
L1CAM interactions	1
Cardiac conduction	1
Sensory perception of taste	1
Axon guidance	1
Nervous system development	1
Muscle contraction	1
Developmental Biology	1
Sensory Perception	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
regulation of sodium ion transport	2
sodium ion transport	2
cardiac muscle cell action potential	2
sodium channel activity	2
cellular process	1
axonogenesis	1
neuron projection guidance	1
positive regulation of monoatomic ion transport	1
regulation of neuron projection development	1
neuron projection development	1
positive regulation of cell projection organization	1
transmission of nerve impulse	1
nervous system process	1
action potential propagation	1
axon guidance	1
corticospinal tract morphogenesis	1
monoatomic cation transmembrane transport	1
biological_process	1
regulation of membrane potential	1
striated muscle contraction	1
heart contraction	1
regulation of cardiac muscle cell membrane repolarization	1
ventricular cardiac muscle cell membrane repolarization	1
regulation of membrane depolarization	1
regulation of heart contraction	1
cardiac muscle cell contraction	1
action potential	1
membrane depolarization	1
membrane depolarization during action potential	1
membrane depolarization during cardiac muscle cell action potential	1
Purkinje myocyte action potential	1
regulation of heart rate	1
cardiac conduction	1
sodium ion transmembrane transport	1
regulation of monoatomic cation transmembrane transport	1
voltage-gated sodium channel activity	1
regulation of voltage-gated sodium channel activity	1
positive regulation of sodium ion transmembrane transporter activity	1
positive regulation of cation channel activity	1

Protein interactions and networks

STRING

1306 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SCN1B	SCN2B	O60939	986
SCN1B	SCN1A	P35498	980
SCN1B	SCN4B	Q8IWT1	973
SCN1B	SCN5A	Q14524	967
SCN1B	GABRG2	P18507	943
SCN1B	SCN9A	Q15858	935
SCN1B	SCN2A	Q99250	930
SCN1B	GPD1L	Q8N335	894
SCN1B	SCN3A	Q9NY46	889
SCN1B	KCNE3	Q9Y6H6	885
SCN1B	SCN8A	Q9UQD0	876
SCN1B	KCND3	Q9UK17	837
SCN1B	HCN4	Q9Y3Q4	826
SCN1B	CACNB2	Q08289	825
SCN1B	SCN4A	P35499	795

IntAct

6 interactions, top by confidence:

A	B	Type	Score
SCN1B	GET4	psi-mi:“MI:0915”(physical association)	0.400
SCN1B	ADRA1A	psi-mi:“MI:0915”(physical association)	0.370
SCN1B	C5AR2	psi-mi:“MI:0915”(physical association)	0.370
SCN1B	F2RL1	psi-mi:“MI:0915”(physical association)	0.370
SCN1B	UBB	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): ANK3 (Affinity Capture-Western), CNTN1 (Affinity Capture-Western), SCN1B (Affinity Capture-Western), SCN1B (Affinity Capture-Western), SCN4B (Affinity Capture-Western), SCN1B (Two-hybrid), SCN1B (Two-hybrid), SCN1B (Two-hybrid), TTC1 (Affinity Capture-MS), RNF126 (Affinity Capture-MS), UBB (Affinity Capture-MS), RNF115 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), AMFR (Affinity Capture-MS), GET4 (Affinity Capture-MS)

ESM2 similar proteins: A3KPA0, A5A6L6, A5D7C3, O60487, O70255, O88792, P01865, P01903, P01904, P01910, P04224, P04228, P14434, P14439, P14778, P15980, P22646, P23150, P53788, P57087, P59822, P97952, Q00954, Q02955, Q07699, Q17QN4, Q1WIM2, Q28740, Q2WGK2, Q30631, Q3TEW6, Q3V3F6, Q4PPC4, Q5EAB0, Q5R804, Q61730, Q62929, Q63621, Q66KX2, Q68FQ2

Diamond homologs: A5A6L6, P53788, P97952, Q00954, Q07699, Q17QN4, Q2KI11, Q4PPC4, Q8BHK2, Q8HXJ7, Q9JK00, Q9NY72, O70255, Q5EAB0, Q6WEB5

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SCN1B	“form complex”	“Nax cation channel complex, SCN1B-SCN4B variant”	binding
SCN1B	“form complex”	“Nax cation channel complex, SCN1B-SCN2B variant”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

702 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	27
Likely pathogenic	5
Uncertain significance	369
Likely benign	164
Benign	35

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1376394	NM_001037.5(SCN1B):c.219T>G (p.Tyr73Ter)	Pathogenic
1449534	NM_001037.5(SCN1B):c.304C>T (p.Gln102Ter)	Pathogenic
190871	NM_001037.5(SCN1B):c.449-1G>A	Pathogenic
2014378	NM_001037.5(SCN1B):c.312_315del (p.Ile106fs)	Pathogenic
2031780	NM_001037.5(SCN1B):c.518G>A (p.Trp173Ter)	Pathogenic
2035464	NM_001037.5(SCN1B):c.447del (p.Ala150fs)	Pathogenic
2123799	NM_001037.5(SCN1B):c.448+10del	Pathogenic
2709805	NM_001037.5(SCN1B):c.178dup (p.Arg60fs)	Pathogenic
2728379	NM_001037.5(SCN1B):c.59dup (p.Cys21fs)	Pathogenic
2728854	NM_001037.5(SCN1B):c.105del (p.Phe36fs)	Pathogenic
2762136	NM_001037.5(SCN1B):c.94_95insC (p.Tyr32fs)	Pathogenic
2891167	NM_001037.5(SCN1B):c.3G>A (p.Met1Ile)	Pathogenic
3644786	NM_001037.5(SCN1B):c.20del (p.Ala6_Leu7insTer)	Pathogenic
3672329	NM_001037.5(SCN1B):c.166G>T (p.Glu56Ter)	Pathogenic
3726861	NM_001037.5(SCN1B):c.24_25insT (p.Val9fs)	Pathogenic
3730944	NM_001037.5(SCN1B):c.40+1G>A	Pathogenic
375404	NM_001037.5(SCN1B):c.308A>T (p.Asp103Val)	Pathogenic
375687	NM_001037.5(SCN1B):c.316A>T (p.Ile106Phe)	Pathogenic
4720677	NM_001037.5(SCN1B):c.77C>A (p.Ser26Ter)	Pathogenic
4726829	NM_001037.5(SCN1B):c.357C>A (p.Tyr119Ter)	Pathogenic
4728335	NM_001037.5(SCN1B):c.178del (p.Arg60fs)	Pathogenic
4796654	NM_001037.5(SCN1B):c.40+1G>T	Pathogenic
694617	NM_001037.5(SCN1B):c.449-2A>G	Pathogenic
694618	NM_001037.5(SCN1B):c.355T>G (p.Tyr119Asp)	Pathogenic
855779	NM_001037.5(SCN1B):c.207+1G>A	Pathogenic
9253	NM_001037.5(SCN1B):c.208-2A>C	Pathogenic
9256	NM_001037.5(SCN1B):c.448+89G>A	Pathogenic
1677458	NM_001037.5(SCN1B):c.41-1G>T	Likely pathogenic
2146865	NM_001037.5(SCN1B):c.449-1G>T	Likely pathogenic
3065198	NM_001037.5(SCN1B):c.448+349del	Likely pathogenic

SpliceAI

1090 predictions. Top by Δscore:

Variant	Effect	Δscore
19:35032526:A:AG	acceptor_gain	1.0000
19:35032526:AGT:A	acceptor_gain	1.0000
19:35032527:G:GT	acceptor_gain	1.0000
19:35032527:GT:G	acceptor_gain	1.0000
19:35032527:GTG:G	acceptor_gain	1.0000
19:35032527:GTGT:G	acceptor_gain	1.0000
19:35032527:GTGTC:G	acceptor_gain	1.0000
19:35032674:GGCAC:G	donor_gain	1.0000
19:35032682:G:GT	donor_gain	1.0000
19:35032690:TCAAG:T	donor_loss	1.0000
19:35032694:GG:G	donor_loss	1.0000
19:35033486:T:A	acceptor_gain	1.0000
19:35033492:C:G	acceptor_gain	1.0000
19:35033495:CTAG:C	acceptor_loss	1.0000
19:35033496:TA:T	acceptor_loss	1.0000
19:35033497:A:AG	acceptor_gain	1.0000
19:35033497:AGAT:A	acceptor_loss	1.0000
19:35033498:G:GC	acceptor_gain	1.0000
19:35033498:GA:G	acceptor_gain	1.0000
19:35033498:GAT:G	acceptor_gain	1.0000
19:35033498:GATC:G	acceptor_gain	1.0000
19:35033498:GATCC:G	acceptor_gain	1.0000
19:35033740:G:C	donor_loss	1.0000
19:35033741:T:A	donor_loss	1.0000
19:35039171:T:TA	acceptor_gain	1.0000
19:35039251:GAGAA:G	donor_gain	1.0000
19:35039255:ATGC:A	donor_gain	1.0000
19:35039256:TGC:T	donor_gain	1.0000
19:35039256:TGCG:T	donor_loss	1.0000
19:35039257:GC:G	donor_gain	1.0000

AlphaMissense

1434 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:35032605:T:A	C40S	1.000
19:35032605:T:C	C40R	1.000
19:35032606:G:A	C40Y	1.000
19:35032606:G:C	C40S	1.000
19:35032607:C:G	C40W	1.000
19:35032614:T:A	C43S	1.000
19:35032615:G:A	C43Y	1.000
19:35032615:G:C	C43S	1.000
19:35032616:C:G	C43W	1.000
19:35032656:T:A	W57R	1.000
19:35032656:T:C	W57R	1.000
19:35032657:G:C	W57S	1.000
19:35032658:G:C	W57C	1.000
19:35032658:G:T	W57C	1.000
19:35032662:T:C	F59L	1.000
19:35032664:C:A	F59L	1.000
19:35032664:C:G	F59L	1.000
19:35033565:T:A	W92R	1.000
19:35033565:T:C	W92R	1.000
19:35033567:G:C	W92C	1.000
19:35033567:G:T	W92C	1.000
19:35033652:T:A	C121S	1.000
19:35033652:T:C	C121R	1.000
19:35033653:G:C	C121S	1.000
19:35033654:C:G	C121W	1.000
19:35033665:G:C	R125P	1.000
19:35032606:G:T	C40F	0.999
19:35032614:T:C	C43R	0.999
19:35032615:G:T	C43F	0.999
19:35032619:G:C	K44N	0.999

dbSNP variants (sampled 300 via entrez): RS1000092363 (19:35036127 G>GT), RS1000117221 (19:35040367 G>A), RS1001222519 (19:35035645 T>C), RS1002043027 (19:35038064 G>A,C,T), RS1002137782 (19:35030952 C>G), RS1002200861 (19:35029966 C>T), RS1002487178 (19:35030697 G>A), RS1003177665 (19:35029137 C>A,T), RS1003567394 (19:35034250 G>A,C), RS1003784441 (19:35039970 C>T), RS1003906744 (19:35030893 G>A,T), RS1004045980 (19:35038790 G>A), RS1004092373 (19:35032236 C>T), RS1004104847 (19:35030677 C>A), RS1005229466 (19:35030109 G>A)

Disease associations

OMIM: gene MIM:600235 | disease phenotypes: MIM:612838, MIM:604233, MIM:615377, MIM:617350, MIM:601144, MIM:308350, MIM:117100, MIM:600131, MIM:608583

GenCC curated gene-disease

Disease	Classification	Inheritance
genetic developmental and epileptic encephalopathy	Definitive	Autosomal recessive
generalized epilepsy with febrile seizures plus, type 1	Definitive	Autosomal dominant
developmental and epileptic encephalopathy, 52	Definitive	Autosomal recessive
Brugada syndrome 5	Moderate	Autosomal dominant
Dravet syndrome	Supportive	Autosomal dominant
generalized epilepsy with febrile seizures plus	Supportive	Autosomal dominant
progressive familial heart block	Supportive	Autosomal dominant
atrial fibrillation, familial, 13	Limited	Unknown
Brugada syndrome 1	Disputed Evidence	Autosomal dominant

ClinGen Gene-Disease Validity (3)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
generalized epilepsy with febrile seizures plus	Definitive	AD
genetic developmental and epileptic encephalopathy	Definitive	AR
Brugada syndrome 1	Disputed	AD

Mondo (21): Brugada syndrome 5 (MONDO:0013015), Dravet syndrome (MONDO:0100135), generalized epilepsy with febrile seizures plus, type 1 (MONDO:0011416), atrial fibrillation, familial, 13 (MONDO:0014155), developmental and epileptic encephalopathy, 52 (MONDO:0033361), Brugada syndrome 1 (MONDO:0011001), long QT syndrome (MONDO:0002442), ventricular fibrillation (MONDO:0000190), cardiac rhythm disease (MONDO:0007263), cardiomyopathy (MONDO:0004994), developmental and epileptic encephalopathy, 1 (MONDO:0010632), self-limited epilepsy with centrotemporal spikes (MONDO:0007295), Brugada syndrome (MONDO:0015263), undetermined early-onset epileptic encephalopathy (MONDO:0018614), childhood absence epilepsy (MONDO:0010826)

Orphanet (8): Brugada syndrome (Orphanet:130), Hereditary progressive cardiac conduction defect (Orphanet:871), Dravet syndrome (Orphanet:33069), Genetic epilepsy with febrile seizure plus (Orphanet:36387), Rare cardiomyopathy (Orphanet:167848), Self-limited epilepsy with centrotemporal spikes (Orphanet:1945), Non-specific early-onset epileptic encephalopathy (Orphanet:442835), Childhood absence epilepsy (Orphanet:64280)

HPO phenotypes

148 total (30 of 148 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000054	Micropenis
HP:0000070	Ureterocele
HP:0000110	Renal dysplasia
HP:0000175	Cleft palate
HP:0000252	Microcephaly
HP:0000340	Sloping forehead
HP:0000463	Anteverted nares
HP:0000466	Limited neck range of motion
HP:0000486	Strabismus
HP:0000729	Autistic behavior
HP:0000736	Short attention span
HP:0000739	Anxiety
HP:0000752	Hyperactivity
HP:0000826	Precocious puberty
HP:0000980	Pallor
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001266	Choreoathetosis
HP:0001272	Cerebellar atrophy
HP:0001279	Syncope
HP:0001290	Generalized hypotonia
HP:0001300	Parkinsonism
HP:0001302	Pachygyria

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001699_14	Serum albumin levels	2.000000e-13
GCST001699_5	Serum albumin levels	4.000000e-18
GCST001699_8	Serum albumin levels	3.000000e-15
GCST009391_1239	Metabolite levels	6.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010422	triacylglycerol 54:4 measurement

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D053840	Brugada Syndrome	C14.280.067.322; C14.280.123.250; C16.320.100
D009202	Cardiomyopathies	C14.280.238
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
D014693	Ventricular Fibrillation	C14.280.067.922; C23.550.073.922
C538261	Atrial fibrillation, familial 1 (supp.)
C565809	Generalized Epilepsy With Febrile Seizures Plus, Type 1 (supp.)
C565808	Generalized Epilepsy with Febrile Seizures Plus (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (10): CHEMBL4523668 (PROTEIN COMPLEX), CHEMBL4523669 (PROTEIN COMPLEX), CHEMBL4523670 (PROTEIN COMPLEX), CHEMBL4523671 (PROTEIN COMPLEX), CHEMBL4523672 (PROTEIN COMPLEX), CHEMBL4630760 (PROTEIN COMPLEX), CHEMBL4630762 (PROTEIN COMPLEX), CHEMBL4630763 (PROTEIN COMPLEX), CHEMBL4630765 (PROTEIN COMPLEX), CHEMBL5487 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 236 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL4633566	DS-1971	2	17
CHEMBL2325014	PF-05089771	2	219

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

85 potent at pChembl≥5 of 125 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.40	IC50	0.4	nM	CHEMBL3657855
9.22	IC50	0.6	nM	CHEMBL5094715
8.72	IC50	1.9	nM	CHEMBL2325622
7.97	IC50	10.6	nM	CHEMBL3657855
7.92	IC50	12	nM	CHEMBL4642571
7.89	IC50	13	nM	CHEMBL4580996
7.89	IC50	13	nM	PF-05089771
7.85	IC50	14	nM	CHEMBL5288162
7.82	IC50	15	nM	CHEMBL5286433
7.77	IC50	17	nM	CHEMBL4632675
7.72	IC50	19	nM	CHEMBL5276801
7.70	IC50	20	nM	CHEMBL4468899
7.70	IC50	20	nM	CHEMBL4435054
7.66	IC50	21.7	nM	DS-1971
7.62	IC50	24	nM	CHEMBL4637488
7.61	IC50	24.5	nM	DS-1971
7.55	IC50	28	nM	CHEMBL4633573
7.55	IC50	28	nM	CHEMBL4642940
7.52	IC50	30	nM	CHEMBL4444000
7.52	IC50	30	nM	CHEMBL4648397
7.51	IC50	31	nM	CHEMBL4460028
7.51	IC50	31	nM	CHEMBL4639987
7.50	IC50	32	nM	CHEMBL5286829
7.47	IC50	34	nM	CHEMBL5270366
7.42	IC50	38	nM	CHEMBL5280425
7.40	IC50	40	nM	CHEMBL4530743
7.40	IC50	40	nM	CHEMBL4544968
7.40	IC50	40	nM	CHEMBL4471825
7.40	IC50	40	nM	CHEMBL5284082
7.35	IC50	45	nM	CHEMBL4637909
7.33	IC50	47	nM	CHEMBL4466858
7.30	IC50	50	nM	CHEMBL4580815
7.29	IC50	51	nM	CHEMBL3657855
7.28	IC50	52	nM	CHEMBL5286125
7.24	IC50	58	nM	CHEMBL5285313
7.23	IC50	59	nM	CHEMBL5287784
7.22	IC50	60	nM	CHEMBL4466858
7.22	IC50	60	nM	CHEMBL4460028
7.22	IC50	60	nM	CHEMBL4645788
7.18	IC50	66	nM	CHEMBL4435054
7.16	IC50	70	nM	CHEMBL4529272
7.10	IC50	80	nM	CHEMBL4457973
7.07	IC50	85	nM	CHEMBL5267728
7.06	IC50	87	nM	CHEMBL5269981
7.00	IC50	100	nM	CHEMBL4462046
6.96	IC50	110	nM	CHEMBL4445144
6.95	IC50	113	nM	CHEMBL4640756
6.92	IC50	119	nM	CHEMBL4580996
6.92	IC50	120	nM	CHEMBL4558113
6.90	IC50	125	nM	CHEMBL4471825

PubChem BioAssay actives

85 with measured affinity, of 184 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-(1-adamantylmethoxy)-N-(azetidin-1-ylsulfonyl)-5-cyclopropyl-2-fluorobenzamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0004	uM
5-cyclopropyl-4-[[1-[(1S)-1-(3,5-dichlorophenyl)ethyl]piperidin-4-yl]methoxy]-2-fluoro-N-methylsulfonylbenzamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0006	uM
4-[4-chloro-2-[2-(1-methylazetidin-3-yl)pyrazol-3-yl]phenoxy]-2,5-difluoro-N-(1,2,4-thiadiazol-5-yl)benzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0019	uM
2,5-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclohexyl]oxy-N-(1,2,4-thiadiazol-5-yl)benzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0120	uM
5-chloro-4-[[(1S)-1-(2,5-difluorophenyl)ethyl]amino]-2-fluoro-N-(1,3-thiazol-4-yl)benzenesulfonamide	1616312: Inhibition of recombinant human full length Nav1.2 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.0130	uM
4-[2-(5-amino-1H-pyrazol-4-yl)-4-chlorophenoxy]-5-chloro-2-fluoro-N-(1,3-thiazol-4-yl)benzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0130	uM
6-fluoro-1-(3-fluorophenyl)-3-methyl-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0140	uM
N-cyclopropylsulfonyl-3-methyl-1-[5-(trifluoromethyl)-3-pyridinyl]indole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0150	uM
2,5-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclopentyl]oxy-N-(1,2,4-thiadiazol-5-yl)benzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0170	uM
6-fluoro-3-methyl-N-methylsulfonyl-1-[3-(trifluoromethyl)phenyl]indole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0190	uM
2,6-difluoro-4-[[2-fluoro-6-[[methyl(propan-2-yl)amino]methyl]phenyl]methylamino]-N-(1,3-thiazol-4-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.0200	uM
5-chloro-2-fluoro-4-[[(1S)-1-phenylethyl]amino]-N-(1,3-thiazol-2-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.0200	uM
5-chloro-2-fluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclohexyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0217	uM
2-fluoro-5-methyl-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclopentyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0240	uM
2,5-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclopentyl]oxy-N-(1,3-thiazol-2-yl)benzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0280	uM
2,6-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cycloheptyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0280	uM
4-[[2-(azetidin-1-ylmethyl)-6-fluorophenyl]methylamino]-5-chloro-2-fluoro-N-(1,3-thiazol-4-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.0300	uM
2,6-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclohexyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0300	uM
4-[[2-[(2,2-dimethylazetidin-1-yl)methyl]-6-fluorophenyl]methylamino]-2,6-difluoro-N-(1,3-thiazol-4-yl)benzenesulfonamide	1616312: Inhibition of recombinant human full length Nav1.2 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.0310	uM
2-fluoro-5-methyl-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclohexyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0310	uM
N-cyclopropylsulfonyl-1-(3-fluorophenyl)-3-methylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0320	uM
3-methyl-N-methylsulfonyl-1-[3-(trifluoromethyl)phenyl]indole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0340	uM
1-(3-fluorophenyl)-3-methyl-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0380	uM
5-chloro-2-fluoro-4-[[(1R)-2-methoxy-1-phenylethyl]amino]-N-(1,3-thiazol-2-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.0400	uM
5-chloro-4-[[(1S)-1-(2,4-difluorophenyl)ethyl]amino]-2-fluoro-N-(1,3-thiazol-2-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.0400	uM
4-[[2-[[tert-butyl(methyl)amino]methyl]-6-fluorophenyl]methylamino]-2,6-difluoro-N-(1,3-thiazol-4-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.0400	uM
N-cyclopropylsulfonyl-6-fluoro-3-methyl-1-[5-(trifluoromethyl)-3-pyridinyl]indole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0400	uM
5-chloro-2-fluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclopentyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0450	uM
2,6-difluoro-4-[[(1S)-1-(2-fluorophenyl)ethyl]amino]-N-(1,3-thiazol-4-yl)benzenesulfonamide	1616312: Inhibition of recombinant human full length Nav1.2 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.0470	uM
3-chloro-4-(1-phenylpropylamino)-N-(1,3-thiazol-2-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.0500	uM
5-chloro-4-[(5-chloro-6-cyclopropyl-3-pyridinyl)oxy]-2-fluoro-N-methylsulfonylbenzamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0520	uM
3-methyl-1-(3-methylphenyl)-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0580	uM
N-cyclopropylsulfonyl-3-methyl-1-[6-(trifluoromethyl)-3-pyridinyl]indole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0590	uM
2,6-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclopentyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0600	uM
2,6-difluoro-4-[[(1S)-1-(2-fluoro-5-methoxyphenyl)ethyl]amino]-N-(1,3-thiazol-4-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.0700	uM
5-chloro-2-fluoro-4-[[(1S)-1-pyridin-3-ylethyl]amino]-N-(1,3-thiazol-2-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.0800	uM
1-(5-chloro-3-pyridinyl)-N-cyclopropylsulfonyl-3-methylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0850	uM
1-(3-chlorophenyl)-3-methyl-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0870	uM
3-chloro-4-(1-phenylethylamino)-N-(1,3-thiazol-2-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.1000	uM
5-chloro-2-fluoro-4-[[(1S)-1-(2-fluoro-5-methoxyphenyl)ethyl]amino]-N-(1,3-thiazol-4-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.1100	uM
2,5-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclohexyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.1130	uM
4-[[(1S)-1-[5-(azetidin-1-ylmethyl)-2-fluorophenyl]ethyl]amino]-5-chloro-2-fluoro-N-(1,3-thiazol-4-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.1200	uM
3-chloro-4-[[(1S)-1-phenylethyl]amino]-N-(1,3-thiazol-2-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.1300	uM
4-[[(1S)-1-(5-cyano-2-fluorophenyl)ethyl]amino]-2,6-difluoro-N-(1,3-thiazol-4-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.1400	uM
2,5-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclopentyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.1800	uM
1-(3-methoxyphenyl)-3-methyl-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.1900	uM
1-(4-fluorophenyl)-3-methyl-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.1900	uM
5-chloro-2-fluoro-4-[[(1S)-1-(4-fluorophenyl)ethyl]amino]-N-(1,3-thiazol-2-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.2300	uM
5-chloro-4-[[2-[(2,2-dimethylazetidin-1-yl)methyl]-6-fluorophenyl]methylamino]-2-fluoro-N-(1,3-thiazol-4-yl)benzenesulfonamide	1616304: Inhibition of recombinant human full length Nav1.6 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	ic50	0.2300	uM
1-(4-chlorophenyl)-3-methyl-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.2600	uM

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
cobaltous chloride	decreases expression, increases expression	2
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression, decreases expression	2
Benzo(a)pyrene	affects methylation	2
Particulate Matter	decreases expression, increases abundance	2
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	affects methylation	1
CGP 52608	affects binding, increases reaction	1
2,3,5,6-tetrafluoro-4-methylbenzyl (Z)-(1RS)-cis-3-(2-chloro-3,3,3-trifluoroprop-1-enyl)-2,2-dimethylcyclopropanecarboxylate	increases transport, affects cotreatment, decreases reaction	1
abrine	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arbutin	increases expression	1
Aspirin	increases expression	1
Calcitriol	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	increases expression, decreases reaction	1
Phenytoin	affects binding, decreases activity, decreases response to substance	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Sodium	decreases reaction, increases transport, affects cotreatment	1
Testosterone	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Cyclosporine	decreases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	increases expression	1

ChEMBL screening assays

15 unique, capped per target: 7 binding, 6 admet, 2 toxicity

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4415855	ADMET	Inhibition of recombinant human full length Nav1.1 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -45 mV holding potential by whole cell patch clamp assay	Identification of CNS-Penetrant Aryl Sulfonamides as Isoform-Selective NaV1.6 Inhibitors with Efficacy in Mouse Models of Epilepsy. — J Med Chem
CHEMBL4415863	Binding	Inhibition of recombinant human full length Nav1.7 co-expressed with human SCN1B in HEK293 cells measured after 20 mins at -60 mV holding potential by whole cell patch clamp assay	Identification of CNS-Penetrant Aryl Sulfonamides as Isoform-Selective NaV1.6 Inhibitors with Efficacy in Mouse Models of Epilepsy. — J Med Chem
CHEMBL5252387	Toxicity	Inhibition of human Nav1.1/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	N-Aryl Indoles as a Novel Class of Potent NaV1.7 Inhibitors. — ACS Med Chem Lett

Cellosaurus cell lines

7 cell lines: 3 cancer cell line, 3 transformed cell line, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A8HC	BJTTHi001-A-2	Induced pluripotent stem cell	Male
CVCL_B2ES	Abcam HeLa SCN1B KO	Cancer cell line	Female
CVCL_D1KK	PrecisION hNav1.8/beta1-HEK	Transformed cell line	Female
CVCL_TK15	HAP1 SCN1B (-) 1	Cancer cell line	Male
CVCL_TK16	HAP1 SCN1B (-) 2	Cancer cell line	Male
CVCL_WS18	HEK293 SCN1A/SCN1B/SCN2B	Transformed cell line	Female
CVCL_YN15	HEK-293 hNav1.9	Transformed cell line	Female

Clinical trials (associated diseases)

303 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05044819	PHASE4	ACTIVE_NOT_RECRUITING	Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution
NCT06598449	PHASE4	RECRUITING	Assessment of Safety of the Use of Fenfluramine in Children With Dravet Syndrome Under 24 Months of Age
NCT06924827	PHASE4	NOT_YET_RECRUITING	A Study to Investigate the Transition of Children From ‘Artisanal Cannabidiol (CBD) to Epidiolex
NCT07112365	PHASE4	NOT_YET_RECRUITING	The FINTEPLA as an Anti-SUDEP Therapy in Dravet Syndrome Project
NCT02513940	PHASE4	COMPLETED	Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883	PHASE4	COMPLETED	Reducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04675788	PHASE4	COMPLETED	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening
NCT00147277	PHASE4	COMPLETED	ADVANCE-D: Antitachycardia Pacing (ATP) Delivery for Painless Implantable Cardioverter Defibrillator (ICD) Therapy
NCT00147290	PHASE4	COMPLETED	ADVANCE CRT - D: Antitachycardia Pacing (ATP) Delivery for Painless Implantable Cardioverter Defibrillator (ICD) Therapy
NCT00180427	PHASE4	COMPLETED	VERRARI - Are Ventricular Arrhythmic Episodes Reduced by Rate Response in ICDs?
NCT00401466	PHASE4	COMPLETED	Remote Follow-up of Patients Receiving Implantable Cardioverter Defibrillator for Prophylactic Therapy
NCT00538356	PHASE4	COMPLETED	Influence of Home Monitoring on the Clinical Status of Heart Failure Patients With an Impaired Left Ventricular Function
NCT00787800	PHASE4	COMPLETED	The Use of Dual Chamber ICD With Special Programmed Features to Lower the Risk of Inappropriate Shock
NCT03826524	PHASE4	RECRUITING	Epinephrine Dose: Optimal Versus Standard Evaluation Trial
NCT03855826	PHASE4	UNKNOWN	Evaluation of the Efficacy and Safety of Nifekalant Hydrochloride (NIF) Injection.
NCT06719141	PHASE3	RECRUITING	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathies (DEE)
NCT06908226	PHASE3	ENROLLING_BY_INVITATION	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)
NCT00098475	PHASE3	ACTIVE_NOT_RECRUITING	Lenalidomide and Dexamethasone With or Without Thalidomide in Treating Patients With Multiple Myeloma
NCT00114101	PHASE3	ACTIVE_NOT_RECRUITING	Lenalidomide in Treating Patients With Multiple Myeloma Undergoing Autologous Stem Cell Transplant
NCT00644228	PHASE3	ACTIVE_NOT_RECRUITING	Lenalidomide and Dexamethasone With or Without Bortezomib in Treating Patients With Previously Untreated Multiple Myeloma
NCT00869206	PHASE3	COMPLETED	Zoledronic Acid in Treating Patients With Metastatic Breast Cancer, Metastatic Prostate Cancer, or Multiple Myeloma With Bone Involvement
NCT02091375	PHASE3	COMPLETED	Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1)
NCT02174094	PHASE3	WITHDRAWN	Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome
NCT02187809	PHASE3	TERMINATED	Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome
NCT02224573	PHASE3	COMPLETED	An Open Label Extension Study of Cannabidiol (GWP42003-P) in Children and Adults With Dravet or Lennox-Gastaut Syndromes
NCT02224703	PHASE3	COMPLETED	GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome
NCT02318563	PHASE3	WITHDRAWN	Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Dravet Syndrome
NCT02682927	PHASE3	COMPLETED	A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) in Children and Young Adults With Dravet Syndrome
NCT02823145	PHASE3	COMPLETED	An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution in Children and Young Adults With Dravet Syndrome
NCT02926898	PHASE3	COMPLETED	A 2-Part Study to Investigate the Dose-Ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children ≥ 2 Years Old and Young Adults With Dravet Syndrome
NCT03299842	PHASE3	TERMINATED	A Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome
NCT03936777	PHASE3	COMPLETED	A Study to Investigate the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Children and Adults With Epileptic Encephalopathy Including Dravet Syndrome and Lennox-Gastaut Syndrome
NCT04462770	PHASE3	RECRUITING	A Study of EPX-100 (Clemizole Hydrochloride) in Participants With Dravet Syndrome
NCT04611438	PHASE3	UNKNOWN	Research on Cognitive Effect of Cannabidiol on Dravet Syndrome and Lennox-Gastaut SyndromeGastaut Syndrome
NCT04940624	PHASE3	COMPLETED	A Study of Soticlestat as an Add-on Therapy in Children and Young Adults With Dravet Syndrome
NCT05163314	PHASE3	TERMINATED	A Study of Soticlestat as an Add-on Therapy in Children and Adults With Dravet Syndrome or Lennox-Gastaut Syndrome
NCT05560282	PHASE3	TERMINATED	Fenfluramine for Adult Dravet Patients
NCT06118255	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate Safety, Tolerability, and Pharmacokinetics of Fenfluramine (Hydrochloride) in Infants 1 Year to Less Than 2 Years of Age With Dravet Syndrome
NCT06422377	PHASE3	TERMINATED	A Study Evaluating Soticlestat in Participants With Dravet Syndrome or Lennox-Gastaut Syndrome Who Have Been Exposed to Fenfluramine