SNAP25

Summary

SNAP25 (synaptosome associated protein 25, HGNC:11132) is a protein-coding gene on chromosome 20p12.2, encoding Synaptosomal-associated protein 25 (P60880). t-SNARE involved in the molecular regulation of neurotransmitter release.

Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene.

Source: NCBI Gene 6616 — RefSeq curated summary.

At a glance

• Gene–disease (curated): genetic developmental and epileptic encephalopathy (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 260 total — 3 pathogenic, 20 likely-pathogenic
• Phenotypes (HPO): 77
• Druggable target: yes
• MANE Select transcript: NM_130811

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11132
Approved symbol	SNAP25
Name	synaptosome associated protein 25
Location	20p12.2
Locus type	gene with protein product
Status	Approved
Aliases	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2
Ensembl gene	ENSG00000132639
Ensembl biotype	protein_coding
OMIM	600322
Entrez	6616

Gene structure

Transcript identifiers

Ensembl transcripts: 52 — 43 protein_coding, 6 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000254976, ENST00000304886, ENST00000430336, ENST00000492814, ENST00000495883, ENST00000685131, ENST00000687785, ENST00000689077, ENST00000689248, ENST00000689723, ENST00000689757, ENST00000689858, ENST00000690099, ENST00000690766, ENST00000690812, ENST00000691161, ENST00000691353, ENST00000691665, ENST00000692411, ENST00000692697, ENST00000693325, ENST00000693732, ENST00000706269, ENST00000856447, ENST00000856448, ENST00000856449, ENST00000856450, ENST00000856451, ENST00000856452, ENST00000856453, ENST00000856454, ENST00000856455, ENST00000856456, ENST00000961769, ENST00000961770, ENST00000961771, ENST00000961772, ENST00000961773, ENST00000961774, ENST00000961775, ENST00000961776, ENST00000961777, ENST00000961778, ENST00000961779, ENST00000961780, ENST00000961781, ENST00000961782, ENST00000961783, ENST00000961784, ENST00000961785, ENST00000961786, ENST00000961787

RefSeq mRNA: 13 — MANE Select: NM_130811 NM_001322902, NM_001322903, NM_001322904, NM_001322905, NM_001322906, NM_001322907, NM_001322908, NM_001322909, NM_001322910, NM_001424415, NM_001424416, NM_003081, NM_130811

CCDS: CCDS13109, CCDS13110

Canonical transcript exons

ENST00000254976 — 8 exons

Exon	Start	End
ENSE00000906745	10284724	10284772
ENSE00000906747	10296925	10297050
ENSE00001017161	10277685	10277726
ENSE00001206321	10218830	10218977
ENSE00001229068	10275429	10275563
ENSE00003460458	10299268	10299412
ENSE00003785335	10293161	10293278
ENSE00003903928	10306129	10307418

Expression profiles

Bgee: expression breadth ubiquitous, 220 present calls, max score 99.94.

FANTOM5 (CAGE): breadth broad, TPM avg 96.0964 / max 16377.4739, expressed in 730 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183517	44.9392	640
183519	30.1521	382
183518	18.9099	438
183522	0.5377	118
183521	0.5335	123
183523	0.4924	95
208990	0.4192	120
183525	0.0737	30
183524	0.0387	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pons	UBERON:0000988	99.94	gold quality
cerebellar cortex	UBERON:0002129	99.94	gold quality
cerebellum	UBERON:0002037	99.93	gold quality
cerebellar hemisphere	UBERON:0002245	99.93	gold quality
superior frontal gyrus	UBERON:0002661	99.92	gold quality
cerebellar vermis	UBERON:0004720	99.92	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.92	gold quality
orbitofrontal cortex	UBERON:0004167	99.90	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.90	gold quality
primary visual cortex	UBERON:0002436	99.89	gold quality
occipital lobe	UBERON:0002021	99.88	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.88	gold quality
parietal lobe	UBERON:0001872	99.87	gold quality
postcentral gyrus	UBERON:0002581	99.87	gold quality
prefrontal cortex	UBERON:0000451	99.84	gold quality
middle temporal gyrus	UBERON:0002771	99.84	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	99.84	gold quality
frontal cortex	UBERON:0001870	99.83	gold quality
frontal lobe	UBERON:0016525	99.83	gold quality
endothelial cell	CL:0000115	99.82	gold quality
frontal pole	UBERON:0002795	99.81	gold quality
paraflocculus	UBERON:0005351	99.81	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.81	gold quality
right frontal lobe	UBERON:0002810	99.79	gold quality
superior vestibular nucleus	UBERON:0007227	99.79	gold quality
substantia nigra pars compacta	UBERON:0001965	99.73	gold quality
CA1 field of hippocampus	UBERON:0003881	99.70	gold quality
Ammon’s horn	UBERON:0001954	99.66	gold quality
lateral globus pallidus	UBERON:0002476	99.65	gold quality
amygdala	UBERON:0001876	99.63	gold quality

Single-cell (SCXA)

Detected in 20 experiment(s), a significant marker in 16.

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	6701.41
E-MTAB-7316	yes	6467.70
E-HCAD-30	yes	4809.83
E-HCAD-35	yes	4232.46
E-GEOD-180759	yes	3863.15
E-GEOD-84465	yes	2087.62
E-GEOD-93593	yes	1278.46
E-HCAD-5	yes	759.77
E-GEOD-111727	yes	351.26
E-GEOD-130473	yes	272.23
E-MTAB-7008	yes	34.07
E-GEOD-81547	yes	24.19
E-GEOD-137537	yes	20.73
E-HCAD-10	yes	5.88
E-GEOD-125970	yes	5.30

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, EWSR1, FLI1, HNF4A, JUN, LEF1, OPTN, PGR, POU2F2, POU4F1, POU4F2, REST, SP1, STAT6, TBP

miRNA regulators (miRDB)

133 targeting SNAP25, 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-6867-5P	100.00	82.21	3464
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-454-3P	99.91	74.01	1925

Literature-anchored findings (GeneRIF, showing 40)

• Identified a novel microsatellite repeat in SNAP-25 and case-control analyses suggest there may be a role of this polymorphism in ADHD. (PMID:11920846)
• SNAP-25 traffics to the plasma membrane by a syntaxin-independent mechanism. (PMID:12114505)
• This protein modulates Kv2.1 voltage-dependent K(+) channels in neuroendocrine islet beta-cells through an interaction with the channel N terminus. (PMID:12403834)
• Synaptosome-associated protein of 25 kDa (SNAP25) has been identified as a new kinesin heavy chain (uKHC)-interacting protein. (PMID:12475239)
• elevated mRNA levels of SNAP-25 in adult Down Syndrome brain. (PMID:12499044)
• trend consistent with biased transmission of the TC haplotype of SNAP-25 in all transmissions and detected a significant distortion (P=0.027) when paternal transmissions were evaluated for attention deficit disorder with hyperactivity (PMID:12660803)
• In the hippocampus, the level of SNAP-25 protein is significantly less in the schizophrenic group compared to control or bipolar groups. (PMID:12691775)
• SNAP-25 in cerebrospinal fluid is elevated in schizophrenia suggesting that synaptic pathology may be linked with the pathophysiology of schizophrenia. (PMID:12814864)
• the syntaxin/SNAP-25 dimer binding to synaptotagmins I and II is mediated by an evolutionarily conserved motif (PMID:14709554)
• Association of SNAP-25 with ADHD is largely due to transmission of alleles from paternal chromosomes. (PMID:15007392)
• SNAP-25 is required for the activation and maintenance of store-mediated calcium entry in platelets (PMID:15121806)
• first structure of a CNT endopeptidase in complex with its target SNARE at a resolution of 2.1 A: botulinum neurotoxin serotype A (BoNT/A) protease bound to human SNAP-25 (PMID:15592454)
• However, effects of diazoxide on SNAP-25 protein were nullified by proteasome inhibitors (ALLN, MG-132, and epoxomicin) but not by lysosomal inhibition (NH(4)Cl). (PMID:15752769)
• Quantitative analysis of the dimensions of hyperactivity/impulsivity and inattention in the Toronto sample found that both behavioral traits were associated with SNAP25. (PMID:16088329)
• Variation in single-nucleotide polymorphism is associated with cognitive ability in a Dutch twin study. (PMID:16801949)
• The fact that this protein undergoes Ca2+-induced conformational changes and interacts with SNAP-25 raise the possibility that secretagogin may link Ca2+ signalling to exocytotic processes. (PMID:16939418)
• This study provides significant evidence for assoiatetion single nucleude polymorphism in Korean Attention Deficit Hyperactivity Disorder. (PMID:17325713)
• evidence supporting the association of previously implicated SNPs (rs3746544, rs1051312) of SNAP-25 to ADHD. Co-morbidity with major depressive disorder may enhance detection of the association between SNAP-25 and ADHD. (PMID:17455213)
• We report a loss of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) protein, synaptosome-associated protein 25 (SNAP 25) in HD brains of grades I-IV. (PMID:17877635)
• Two new variants in intron 1 show association with variation in IQ phenotypes in Dutch twins. (PMID:17908175)
• The heterogeneous distribution of SNAP-25 may have important implications not only in relation to the function of the protein as a SNARE (PMID:18041776)
• In this German ADHD sample no preferential transmission of either variant could be observed. (PMID:18250960)
• The expression of the SNARE protein SNAP-25 and its cellular homologue SNAP-23, as well as syntaxin1 and VAMP (vesicle-associated membrane protein) in samples of normal parathyroid tissue, chief cell adenoma, and parathyroid carcinoma, was examined. (PMID:18457912)
• SNARE complex-related genes STX1A, VAMP2 and SNAP25 do not play a major role in susceptibility to schizophrenia in the Japanese population (PMID:18512733)
• structural and functional implications of linked SNARE motifs in SNAP25 (PMID:18596234)
• Results suggest that SNAP-25 is up-regulated and implicated in neuritogenesis in human neuroblastoma SH-SY5Y cells treated with the neuropeptide VIP. (PMID:18617262)
• Expressed in prolactin-producing pituitary adenomas; may play an important role in prolactin release. (PMID:18633321)
• SNAP-25 substrate peptide (residues 180-183) binds to but bypasses cleavage by catalytically active Clostridium botulinum neurotoxin E (PMID:18658150)
• SNAP-25 genotype may modulate synaptic plasticity and neurogenesis in the left hippocampus (PMID:18726138)
• Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3. (PMID:19004828)
• No association was found between SNAP-25 polymorphisms and ADHD. (PMID:19099826)
• These results show that variations in SNAP25, associated with an increased gene expression level in prefrontal cortex, might predispose to early-onset BD. (PMID:19125158)
• Genetic variation at SNAP25 may be differentially associated with both schizophrenia and attention deficit hyperactivity disorder. (PMID:19132710)
• MnlI SNAP-25 polymorphism effect on the variability of neurocognitive traits in all groups suggests the relationship between this gene and general cognitive ability. (PMID:19156089)
• The T1065G polymorphism in the SNAP-25 may be associated with ADHD. (PMID:19695183)
• hypothesize that these differences are the result of a mechanism involving SNAP-25 polymorphisms and its differential expression in specific brain areas (PMID:19713048)
• Data identified three membrane-associated proteins, synaptosomal associated protein 25 (SNAP25), Thy-1 cell surface antigen and zonadhesin, interact with sex hormone binding globulin (SHBG)-ing proteins in the brain. (PMID:19724880)
• SNAP25 is associated with schizophrenia in Irish family and case-control samples (PMID:19806613)
• This article confirms and expands previous studies suggesting that genes moderate ADHD treatment response. The ADHD outcomes are not unitary but reflect both behavioral and learning domains that are likely influenced by different genes. (PMID:19858760)
• This indicates that kinesin-1 facilitates the transport of SNAP-25 containing vesicles as a prerequisite to SNAP-25 driven membrane fusion events. (PMID:19913510)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	snap25a	ENSDARG00000020609
danio_rerio	snap25b	ENSDARG00000058117
mus_musculus	Snap25	ENSMUSG00000027273
rattus_norvegicus	Snap25	ENSRNOG00000006037
drosophila_melanogaster	Snap25	FBGN0011288
drosophila_melanogaster	Snap24	FBGN0266720
caenorhabditis_elegans		WBGENE00004364

Paralogs (3): SNAP23 (ENSG00000092531), SNAP29 (ENSG00000099940), SNAP47 (ENSG00000143740)

Protein

Protein identifiers

Synaptosomal-associated protein 25 — P60880 (reviewed: P60880)

Alternative names: Super protein, Synaptosomal-associated 25 kDa protein

All UniProt accessions (2): P60880, A0A0A0MSS0

UniProt curated annotations — full annotation on UniProt →

Function. t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells.

Subunit / interactions. Part of the SNARE core complex containing SNAP25, VAMP2 and STX1A; this complex constitutes the basic catalytic machinery of the complex neurotransmitter release apparatus. Recruited to the SNARE complex following binding of the SNARE complex component STX1A to STXBP1. This complex binds CPLX1. Found in a complex containing SYT1, SV2B and syntaxin-1. Found in a ternary complex with STX1A and VAMP8. Interacts with HSC70 and with SYT9, forming a complex with DNAJC5. The interaction with SYT9 is inhibited in presence of calcium. Isoform 1 and isoform 2 interact with BLOC1S6. Interacts with CENPF. Interacts with EQTN. Interacts with HGS. Interacts with KCNB1 (via N-terminus); reduces the voltage-dependent potassium channel KCNB1 activity in pancreatic beta cells. Interacts with OTOF. Interacts with RIMS1. Interacts with SNAPIN. Interacts with STXBP6. Interacts with TRIM9. Interacts with ZDHHC13 (via ANK repeats). Interacts with ZDHHC17 (via ANK repeats). Associates with the BLOC-1 complex. Interacts with PLCL1 (via C2 domain). Interacts with PRRT2; this interaction may impair the formation of the SNARE complex. Interacts with alpha-synuclein/SNCA. Interacts with PRPH2. Interacts with ROM1. Interacts with STX3.

Subcellular location. Cytoplasm. Perinuclear region. Cell membrane. Synapse. Synaptosome. Photoreceptor inner segment.

Tissue specificity. Neurons of the neocortex, hippocampus, piriform cortex, anterior thalamic nuclei, pontine nuclei, and granule cells of the cerebellum.

Post-translational modifications. Palmitoylated. Cys-85 appears to be the main site, and palmitoylation is required for membrane association. (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type A (BoNT/A, botA) which hydrolyzes the 197-Gln-|-Arg-198 bond and inhibits neurotransmitter release. (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type C (BoNT/C) which hydrolyzes the 198-Arg-|-Ala-199 bond and inhibits neurotransmitter release. C.botulinum type C only rarely infects humans. (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type E (BoNT/E) which hydrolyzes the 180-Arg-|-Ile-181 bond and inhibits neurotransmitter release.

Disease relevance. Developmental and epileptic encephalopathy 117 (DEE117) [MIM:616330] A form of epileptic encephalopathy, a heterogeneous group of 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. DEE117 is an autosomal dominant form characterized by global developmental delay, delayed walking or inability to walk, intellectual disability, and early-onset seizures. Variable neurological symptoms are muscular hypotonia, movement disorders (ataxia, dystonia or tremor), cerebral visual impairment, and brain volume loss. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. When cloned and expressed in E.coli, where protein palmitoylation does not occur, Cys-85, Cys-88, Cys-90 and Cys-92 in the protein sequence readily form an iron-sulfur cluster.

Similarity. Belongs to the SNAP-25 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P60880-1	1, SNAP-25b	yes
P60880-2	2, SNAP-25a

RefSeq proteins (13): NP_001309831, NP_001309832, NP_001309833, NP_001309834, NP_001309835, NP_001309836, NP_001309837, NP_001309838, NP_001309839, NP_001411344, NP_001411345, NP_003072, NP_570824* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000727	T_SNARE_dom	Domain
IPR000928	SNAP-25_dom	Domain
IPR039077	SNAP-25_N_SNARE_chord	Domain

Pfam: PF00835

UniProt features (35 total): mutagenesis site 12, lipid moiety-binding region 4, modified residue 3, region of interest 3, site 3, domain 2, helix 2, chain 1, splice variant 1, sequence variant 1, sequence conflict 1, strand 1, compositionally biased region 1

Structure

Experimental structures (PDB)

14 structures.

PDB	Method	Resolution (Å)
3DDA	X-RAY DIFFRACTION	1.5
3DDB	X-RAY DIFFRACTION	1.6
1XTG	X-RAY DIFFRACTION	2.1
5W7I	X-RAY DIFFRACTION	2.1
3RK2	X-RAY DIFFRACTION	2.2
5W7J	X-RAY DIFFRACTION	2.2
1KIL	X-RAY DIFFRACTION	2.3
8BAV	X-RAY DIFFRACTION	2.3
8BAN	X-RAY DIFFRACTION	2.35
6JLH	X-RAY DIFFRACTION	2.37
3ZUR	X-RAY DIFFRACTION	2.71
3RK3	X-RAY DIFFRACTION	3.5
3RL0	X-RAY DIFFRACTION	3.8
2N1T	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P60880-F1	84.14	0.59

Functional residue map

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

Catalytic / active sites (3): 180–181 ((microbial infection) cleavage; by c.botulinum neurotoxin type e (bont/e)); 197–198 ((microbial infection) cleavage; by c.botulinum neurotoxin type a (bont/a, bota)); 198–199 ((microbial infection) cleavage; by c.botulinum neurotoxin type c (bont/c))

Post-translational modifications (7): 138, 154, 187, 85, 88, 90, 92

Mutagenesis-validated functional residues (12):

Position	Phenotype
112	mildly decreased binding affinity for zdhhc17.
113	mildly decreased binding affinity for zdhhc17.
115	no effect on zdhhc17 binding.
116	decreased binding affinity for zdhhc17.
117	decreased binding affinity for zdhhc17.
119	no effect on zdhhc17 binding.
152	decreased cleavage by c.botulinum bont/c, no change in cleavage by c.botulinum bont/a (bota).
156	small decrease in affinity for c.botulinum bont/a, increased efficiency of bont/c cleavage.
166	decreased cleavage by bont/c, no change in cleavage by bont/a.
167	small decrease in affinity for c.botulinum bont/a.
199	not cleaved by bont/c.
202	slight decrease in affinity for bont/a, increases kcat for bont/a.

Function

Pathways and Gene Ontology

Reactome pathways

29 pathways

ID	Pathway
R-HSA-181429	Serotonin Neurotransmitter Release Cycle
R-HSA-181430	Norepinephrine Neurotransmitter Release Cycle
R-HSA-210500	Glutamate Neurotransmitter Release Cycle
R-HSA-212676	Dopamine Neurotransmitter Release Cycle
R-HSA-264642	Acetylcholine Neurotransmitter Release Cycle
R-HSA-422356	Regulation of insulin secretion
R-HSA-449836	Other interleukin signaling
R-HSA-5250968	Toxicity of botulinum toxin type A (botA)
R-HSA-5250971	Toxicity of botulinum toxin type C (botC)
R-HSA-5250992	Toxicity of botulinum toxin type E (botE)
R-HSA-6798695	Neutrophil degranulation
R-HSA-888590	GABA synthesis, release, reuptake and degradation
R-HSA-9662360	Sensory processing of sound by inner hair cells of the cochlea
R-HSA-112310	Neurotransmitter release cycle
R-HSA-112315	Transmission across Chemical Synapses
R-HSA-112316	Neuronal System
R-HSA-1280215	Cytokine Signaling in Immune system
R-HSA-1430728	Metabolism
R-HSA-163685	Integration of energy metabolism
R-HSA-1643685	Disease
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-168799	Neurotoxicity of clostridium toxins
R-HSA-449147	Signaling by Interleukins
R-HSA-5339562	Uptake and actions of bacterial toxins
R-HSA-5663205	Infectious disease
R-HSA-9659379	Sensory processing of sound
R-HSA-9709957	Sensory Perception
R-HSA-9824439	Bacterial Infection Pathways

MSigDB gene sets: 603 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, ATF_B, GOBP_POTASSIUM_ION_TRANSPORT, MODULE_92, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_COGNITION, MODULE_274, GOBP_BEHAVIOR, GOBP_VESICLE_LOCALIZATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_NEUROTRANSMITTER_UPTAKE, GOCC_SECRETORY_GRANULE, GOBP_VESICLE_ORGANIZATION

GO Biological Process (16): neurotransmitter uptake (GO:0001504), exocytosis (GO:0006887), chemical synaptic transmission (GO:0007268), locomotory behavior (GO:0007626), associative learning (GO:0008306), regulation of neuron projection development (GO:0010975), synaptic vesicle exocytosis (GO:0016079), obsolete synaptic vesicle docking (GO:0016081), synaptic vesicle priming (GO:0016082), synaptic vesicle fusion to presynaptic active zone membrane (GO:0031629), regulation of insulin secretion (GO:0050796), long-term synaptic potentiation (GO:0060291), presynaptic dense core vesicle exocytosis (GO:0099525), neurotransmitter secretion (GO:0007269), regulation of establishment of protein localization (GO:0070201), potassium ion transmembrane transport (GO:0071805)

GO Molecular Function (7): voltage-gated potassium channel activity (GO:0005249), SNAP receptor activity (GO:0005484), lipid binding (GO:0008289), syntaxin-1 binding (GO:0017075), calcium-dependent protein binding (GO:0048306), SNARE binding (GO:0000149), protein binding (GO:0005515)

GO Cellular Component (25): photoreceptor inner segment (GO:0001917), cytoplasm (GO:0005737), trans-Golgi network (GO:0005802), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), cell cortex (GO:0005938), synaptic vesicle (GO:0008021), membrane (GO:0016020), growth cone (GO:0030426), SNARE complex (GO:0031201), specific granule membrane (GO:0035579), somatodendritic compartment (GO:0036477), presynaptic membrane (GO:0042734), neuron projection (GO:0043005), perinuclear region of cytoplasm (GO:0048471), synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032), tertiary granule membrane (GO:0070821), ribbon synapse (GO:0097470), glutamatergic synapse (GO:0098978), voltage-gated potassium channel complex (GO:0008076), axon (GO:0030424), BLOC-1 complex (GO:0031083), vesicle (GO:0031982), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Neurotransmitter release cycle	6
Neurotoxicity of clostridium toxins	3
Integration of energy metabolism	1
Signaling by Interleukins	1
Innate Immune System	1
Sensory processing of sound	1
Transmission across Chemical Synapses	1
Neuronal System	1
Immune System	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
presynapse	4
cytoplasm	4
neurotransmitter transport	2
vesicle fusion to plasma membrane	2
establishment of localization in cell	2
signal release from synapse	2
synaptic vesicle exocytosis	2
binding	2
protein binding	2
cell periphery	2
secretory granule membrane	2
synapse	2
import into cell	1
vesicle-mediated transport	1
secretion by cell	1
anterograde trans-synaptic signaling	1
behavior	1
learning	1
neuron projection development	1
regulation of plasma membrane bounded cell projection organization	1
neurotransmitter secretion	1
regulated exocytosis	1
vesicle-mediated transport in synapse	1
synaptic vesicle cycle	1
protein-containing complex assembly	1
exocytic process	1
synaptic vesicle membrane organization	1
insulin secretion	1
regulation of protein secretion	1
regulation of peptide hormone secretion	1
regulation of synaptic plasticity	1
positive regulation of synaptic transmission	1
calcium ion-regulated exocytosis of neurotransmitter	1
neuronal dense core vesicle exocytosis	1
chemical synaptic transmission	1
regulation of protein localization	1
establishment of protein localization	1
potassium ion transport	1
monoatomic cation transmembrane transport	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

61 interactions, top by confidence:

A	B	Type	Score
STX11	SNAP23	psi-mi:“MI:0914”(association)	0.900
SNAP25	STX11	psi-mi:“MI:0915”(physical association)	0.670
STX12	SNAP23	psi-mi:“MI:0914”(association)	0.640
Cplx1	Stx1a	psi-mi:“MI:0915”(physical association)	0.560
rep	SNAP25	psi-mi:“MI:0915”(physical association)	0.560
EGFR	SNAP25	psi-mi:“MI:0915”(physical association)	0.550
SNAP25	EGFR	psi-mi:“MI:0915”(physical association)	0.550
SNAP25	STXBP1	psi-mi:“MI:0914”(association)	0.530
NUFIP1	PDE2A	psi-mi:“MI:0914”(association)	0.530
STX3	NBAS	psi-mi:“MI:0914”(association)	0.530
SNAP25	ARF1	psi-mi:“MI:0914”(association)	0.510
ARF1	SNAP25	psi-mi:“MI:0914”(association)	0.510
SNAP25	ARF1	psi-mi:“MI:0403”(colocalization)	0.510
ITSN1	SNAP25	psi-mi:“MI:0403”(colocalization)	0.500
WASHC3	SNAP25	psi-mi:“MI:0915”(physical association)	0.490
ZDHHC17	SNAP25	psi-mi:“MI:0216”(palmitoylation reaction)	0.490
SNAP25	ZDHHC17	psi-mi:“MI:0403”(colocalization)	0.490
SNAP25	botE	psi-mi:“MI:0407”(direct interaction)	0.440
SNAP25	Stx1a	psi-mi:“MI:0915”(physical association)	0.400
	SNAP25	psi-mi:“MI:0915”(physical association)	0.400
SNAP25		psi-mi:“MI:0915”(physical association)	0.400
SNAP25	SNAPIN	psi-mi:“MI:0914”(association)	0.350
VAMP5	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (102): SNAP25 (Affinity Capture-MS), SNAP25 (Affinity Capture-MS), SNAP25 (Affinity Capture-MS), STX11 (Two-hybrid), SNAP25 (Co-fractionation), STXBP1 (Co-fractionation), SNAP25 (Proximity Label-MS), SNAP25 (Affinity Capture-MS), SNAP25 (Affinity Capture-MS), SNAP25 (Affinity Capture-MS), SNAP25 (Biochemical Activity), SNAP25 (Reconstituted Complex), SNAP25 (Affinity Capture-Western), SNAP25 (Affinity Capture-MS), PRRT2 (Two-hybrid)

ESM2 similar proteins: O00161, O09044, O15400, O60499, O64791, O70257, O70377, O70439, O88384, O95721, P31109, P33328, P36975, P36976, P36977, P36978, P58200, P60877, P60878, P60879, P60880, P60881, Q0E1I7, Q0II86, Q17QQ3, Q2KIU0, Q3ZBT5, Q5NVG5, Q5R1X1, Q5R5K4, Q5R602, Q5TZ66, Q6PC54, Q8VZU2, Q92356, Q944A9, Q946Y7, Q94KK7, Q9ERB0, Q9LMG8

Diamond homologs: O00161, O09044, O70377, P36975, P36976, P36977, P36978, P60877, P60878, P60879, P60880, P60881, Q17QQ3, Q5NVG5, Q5R1X1, Q5TZ66, Q6PC54, P55820, O74786, Q6CSD1, Q752V4, Q9SD96, P83351, Q9Z2P6, Q9S7P9, Q0E1I7, Q9LMG8

SIGNOR signaling

11 interactions.

A	Effect	B	Mechanism
PRKCA	up-regulates	SNAP25	phosphorylation
PRKCA	unknown	SNAP25	phosphorylation
SNAPIN	“up-regulates activity”	SNAP25	binding
SNAP25	“form complex”	SNARE_complex	binding
NSF	“down-regulates activity”	SNAP25	binding
SYT1	“up-regulates activity”	SNAP25	binding
CADPS	“up-regulates activity”	SNAP25	binding
CADPS2	“up-regulates activity”	SNAP25	binding
OPTN	“up-regulates quantity by expression”	SNAP25	“transcriptional regulation”
PRKACA	unknown	SNAP25	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 47 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Membrane Trafficking	7	8.7×	3e-03
Vesicle-mediated transport	7	8.1×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
obsolete vesicle docking	5	95.8×	8e-07
exocytosis	5	19.0×	7e-04
neuron projection development	5	15.3×	2e-03
intracellular protein transport	9	14.6×	1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	20
Uncertain significance	82
Likely benign	110
Benign	23

Top pathogenic / likely-pathogenic (23)

Variant ID	HGVS	Classification
1707536	NM_130811.4(SNAP25):c.596C>A (p.Ala199Glu)	Pathogenic
1712269	NM_130811.4(SNAP25):c.529C>T (p.Gln177Ter)	Pathogenic
3899925	SNAP25, VAL48PHE	Pathogenic
1066155	NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro)	Likely pathogenic
1172639	NM_130811.4(SNAP25):c.118A>G (p.Lys40Glu)	Likely pathogenic
1285517	NM_130811.4(SNAP25):c.149T>C (p.Leu50Ser)	Likely pathogenic
1285518	NM_130811.4(SNAP25):c.170T>G (p.Leu57Arg)	Likely pathogenic
1285522	NM_130811.4(SNAP25):c.496G>T (p.Asp166Tyr)	Likely pathogenic
1285523	NM_130811.4(SNAP25):c.497A>G (p.Asp166Gly)	Likely pathogenic
1285524	NM_130811.4(SNAP25):c.521A>C (p.Gln174Pro)	Likely pathogenic
1285525	NM_130811.4(SNAP25):c.575T>C (p.Ile192Thr)	Likely pathogenic
1285527	NM_130811.4(SNAP25):c.72+1G>A	Likely pathogenic
1285528	NM_130811.4(SNAP25):c.114+2T>G	Likely pathogenic
1285529	NM_130811.4(SNAP25):c.520C>T (p.Gln174Ter)	Likely pathogenic
1685449	NM_130811.4(SNAP25):c.170T>C (p.Leu57Pro)	Likely pathogenic
1708244	NM_130811.4(SNAP25):c.164-252del	Likely pathogenic
208672	NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)	Likely pathogenic
2107892	NM_130811.4(SNAP25):c.74C>T (p.Ser25Leu)	Likely pathogenic
2814496	NM_130811.4(SNAP25):c.542T>A (p.Ile181Asn)	Likely pathogenic
2834612	NM_130811.4(SNAP25):c.508_528dup (p.Arg176_Gln177insGluIleAspThrGlnAsnArg)	Likely pathogenic
3235704	NM_130811.4(SNAP25):c.550_552del (p.Lys184del)	Likely pathogenic
803598	NM_130811.4(SNAP25):c.553G>C (p.Ala185Pro)	Likely pathogenic
986340	NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter)	Likely pathogenic

SpliceAI

1638 predictions. Top by Δscore:

Variant	Effect	Δscore
20:10218975:CAGGT:C	donor_loss	1.0000
20:10218976:AGGTA:A	donor_loss	1.0000
20:10218977:GGTAA:G	donor_loss	1.0000
20:10218978:GTA:G	donor_loss	1.0000
20:10218979:T:A	donor_loss	1.0000
20:10275425:CCA:C	acceptor_loss	1.0000
20:10275426:CA:C	acceptor_loss	1.0000
20:10275427:A:AG	acceptor_gain	1.0000
20:10275428:G:GG	acceptor_gain	1.0000
20:10275428:G:GT	acceptor_loss	1.0000
20:10275560:TGAGG:T	donor_loss	1.0000
20:10275561:GAG:G	donor_gain	1.0000
20:10275562:AGGTA:A	donor_loss	1.0000
20:10275563:GGTAA:G	donor_loss	1.0000
20:10275564:G:GC	donor_loss	1.0000
20:10275565:T:A	donor_loss	1.0000
20:10277676:A:AG	acceptor_gain	1.0000
20:10277677:A:G	acceptor_gain	1.0000
20:10284686:A:AG	acceptor_gain	1.0000
20:10284687:A:G	acceptor_gain	1.0000
20:10296921:ATAG:A	acceptor_gain	1.0000
20:10299245:A:AG	acceptor_gain	1.0000
20:10299246:A:G	acceptor_gain	1.0000
20:10299258:T:TA	acceptor_gain	1.0000
20:10299263:CCCAG:C	acceptor_loss	1.0000
20:10299264:CCAG:C	acceptor_loss	1.0000
20:10299265:CAGG:C	acceptor_loss	1.0000
20:10299266:A:AC	acceptor_loss	1.0000
20:10299266:A:AG	acceptor_gain	1.0000
20:10299266:AG:A	acceptor_gain	1.0000

AlphaMissense

1400 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:10284736:G:C	G43R	1.000
20:10284737:G:A	G43D	1.000
20:10284767:A:C	Q53P	1.000
20:10293217:G:C	A74P	1.000
20:10299309:T:C	L150P	1.000
20:10299339:T:C	L160P	1.000
20:10299350:G:C	A164P	1.000
20:10299351:C:A	A164D	1.000
20:10306159:G:C	A195P	1.000
20:10306171:G:C	A199P	1.000
20:10277685:T:C	S25P	0.999
20:10277689:T:C	L26P	0.999
20:10277698:C:T	T29I	0.999
20:10277701:G:C	R30P	0.999
20:10277704:G:C	R31P	0.999
20:10277707:T:G	M32R	0.999
20:10277716:T:C	L35P	0.999
20:10284724:A:C	S39R	0.999
20:10284726:T:A	S39R	0.999
20:10284726:T:G	S39R	0.999
20:10284733:G:C	A42P	0.999
20:10284758:T:C	L50S	0.999
20:10284758:T:G	L50W	0.999
20:10284761:A:T	D51V	0.999
20:10293167:T:C	L57P	0.999
20:10293173:G:C	R59P	0.999
20:10299307:C:A	N149K	0.999
20:10299307:C:G	N149K	0.999
20:10299337:C:A	N159K	0.999
20:10299337:C:G	N159K	0.999

dbSNP variants (sampled 300 via entrez): RS1000067906 (20:10273590 G>T), RS1000069708 (20:10288171 A>G,T), RS1000118820 (20:10281807 C>T), RS1000128029 (20:10238136 A>G), RS1000160366 (20:10307237 T>C), RS1000175754 (20:10251412 T>C), RS1000176708 (20:10287645 C>T), RS1000197582 (20:10239356 A>G), RS1000246623 (20:10231584 A>C,T), RS1000261113 (20:10306854 T>C,G), RS1000270019 (20:10287962 G>A), RS1000337847 (20:10292528 G>A), RS1000339541 (20:10217849 C>A), RS1000348392 (20:10268110 C>G), RS1000405586 (20:10281460 T>C)

Disease associations

OMIM: gene MIM:600322 | disease phenotypes: MIM:616330, MIM:300672

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital myasthenic syndrome 18	Strong	Autosomal dominant
neurodevelopmental disorder	Strong	Autosomal dominant
genetic developmental and epileptic encephalopathy	Moderate	Autosomal dominant
presynaptic congenital myasthenic syndrome	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
genetic developmental and epileptic encephalopathy	Definitive	AD

Mondo (13): congenital myasthenic syndrome 18 (MONDO:0014590), developmental and epileptic encephalopathy (MONDO:0100620), microcephaly (MONDO:0001149), stereotypic movement disorder (MONDO:0002265), optic atrophy (MONDO:0003608), developmental and epileptic encephalopathy, 2 (MONDO:0010396), presynaptic congenital myasthenic syndrome (MONDO:0700466), intellectual disability (MONDO:0001071), focal epilepsy (MONDO:0005384), epilepsy with generalized tonic-clonic seizures (MONDO:0005754), neurodevelopmental disorder (MONDO:0700092), genetic developmental and epileptic encephalopathy (MONDO:0100062), (MONDO:0020345)

Orphanet (7): Congenital myasthenic syndrome (Orphanet:590), Early infantile developmental and epileptic encephalopathy (Orphanet:1934), West syndrome (Orphanet:3451), CDKL5-deficiency disorder (Orphanet:505652), Presynaptic congenital myasthenic syndromes (Orphanet:98914), Epilepsy with generalized tonic-clonic seizures alone (Orphanet:698005), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

77 total (30 of 77 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000218	High palate
HP:0000276	Long face
HP:0000308	Microretrognathia
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000467	Neck muscle weakness
HP:0000508	Ptosis
HP:0000565	Esotropia
HP:0000602	Ophthalmoplegia
HP:0000639	Nystagmus
HP:0000651	Diplopia
HP:0000768	Pectus carinatum
HP:0000961	Cyanosis
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001283	Bulbar palsy
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001374	Congenital hip dislocation
HP:0001382	Joint hypermobility
HP:0001558	Decreased fetal movement
HP:0001561	Polyhydramnios
HP:0001611	Hypernasal speech

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000960_19	Cardiac hypertrophy	9.000000e-06
GCST004682_5	Psychosis proneness (hypomanic personality scale and revised social anhedonia scale)	3.000000e-06
GCST010149_1	Brain imaging measurements (variance)	2.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0002503	cardiac hypertrophy
EFO:0008337	psychosis predisposition measurement
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D004828	Epilepsies, Partial	C10.228.140.490.360
D004830	Epilepsy, Tonic-Clonic	C10.228.140.490.375.290
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D065886	Neurodevelopmental Disorders	F03.625
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D019956	Stereotypic Movement Disorder	F03.625.984
C564064	CDKL5 deficiency disorder (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2364159 (SINGLE PROTEIN)

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

PharmGKB variants

4 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs363020	SNAP25		0.00	0
rs3746544	SNAP25		0.00	0
rs1051312	SNAP25		0.00	0
rs8636	SNAP25		0.00	0

CTD chemical–gene interactions

60 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	10
trichostatin A	affects cotreatment, increases expression	3
bisphenol A	affects methylation, decreases methylation	2
belinostat	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	increases expression, increases methylation, affects reaction, decreases expression, affects methylation	2
Lipopolysaccharides	affects expression, increases expression, affects reaction, affects response to substance	2
Tretinoin	affects binding, increases reaction, increases expression, affects reaction	2
Asbestos, Crocidolite	decreases expression	2
Botulinum Toxins, Type A	increases cleavage	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	increases expression	1
methylselenic acid	increases expression	1
sulforaphane	decreases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
beta-methylcholine	affects expression	1
bicalutamide	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	increases reaction, affects binding	1
deguelin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
PCI 5002	affects cotreatment, decreases expression	1
Olanzapine	affects response to substance	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B7VP	Abcam SH-SY5Y SNAP25 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT00438451	PHASE4	COMPLETED	Study on the Treatment of Elderly Patients With Older and Newer Antiepileptic Drugs
NCT00522418	PHASE4	TERMINATED	Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients
NCT00855738	PHASE4	COMPLETED	A Prospective, Observational Study On The Effectiveness Of New Antiepileptic Drugs As First Bitherapy In The Daily Clinical Practice
NCT00955357	PHASE4	COMPLETED	Trial to Assess Lacosamide as the First add-on Anti-epileptic Drug Treatment in Patients With Partial-onset Seizures
NCT01190098	PHASE4	COMPLETED	Randomized Controlled Trial to Assess Effects of Lacosamide on Sleep and Wake in Adults With Focal Epilepsy
NCT01235403	PHASE4	COMPLETED	Trial to Assess Optimized Dosage of Lacosamide as add-on Therapy in Patients With Partial Onset Seizure
NCT02208492	PHASE4	COMPLETED	The Effects on Cognitive Function of Levetiracetam (Keppra®) Compared to Carbamazepine (Tegretol®, Carmazepine®) as Monotherapy for Children With Partial Seizure; A Multicentric Randomized Controlled Study
NCT03607851	PHASE4	COMPLETED	Efficacy and Safety of Rapid Titration Protocols of Lacosamide
NCT05748236	PHASE4	UNKNOWN	The Efficacy and Safety of Lamotrigine Versus Carbamazepine in Focal Epilepsy
NCT07193277	PHASE4	RECRUITING	Butylphthalide for Cognitive Impairment in Elderly Patients With Focal Epilepsy
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)
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT03347526	PHASE3	SUSPENDED	A Novel Approach to Infantile Spasms
NCT03421496	PHASE3	TERMINATED	A Study to Assess Cannabidiol Oral Solution With Vigabatrin as Initial Therapy in Participants With Infantile Spasms
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT00391534	PHASE3	TERMINATED	EXTENT: EXtended Tolerability and Efficacy of a Novel Formulation of Oxcarbazepine in a Trial in Partial Epilepsy
NCT00522275	PHASE3	COMPLETED	Determine Safety and Efficacy of Long-term Oral Lacosamide in Patients With Partial Seizures
NCT00655486	PHASE3	COMPLETED	Study to Assess the Long-term Safety of Oral Lacosamide in Subjects With Partial-onset Seizures
NCT00655551	PHASE3	COMPLETED	Safety of Intravenous Lacosamide Dose Followed by Twice Daily Oral Lacosamide in Subjects With Partial-onset Seizures
NCT00908349	PHASE3	COMPLETED	Safety and Tolerability of OXC XR as Adjunctive Therapy in Subjects With Refractory Partial Epilepsy
NCT00957047	PHASE3	COMPLETED	Efficacy and Safety Study of BIA 2-093 in Combination With Other Anti-Epileptic Drugs to Treat Partial Epilepsy
NCT00957372	PHASE3	COMPLETED	Efficacy and Safety of Eslicarbazepine Acetate as Adjunctive Therapy for Refractory Partial Epilepsy
NCT00957684	PHASE3	COMPLETED	Efficacy and Safety of Eslicarbazepine Acetate as Adjunctive Therapy for Refractory Partial Seizures
NCT00988429	PHASE3	COMPLETED	Efficacy and Safety of Eslicarbazepine Acetate (BIA 2-093) as Adjunctive Therapy for Refractory Partial Seizures
NCT02076698	PHASE3	COMPLETED	Deep Brain Stimulation of the Anterior Nucleus of the Thalamus in Epilepsy
NCT02535091	PHASE3	COMPLETED	Safety and Pharmacokinetic Study of YKP3089 as Adjunctive Therapy in Subjects With Partial Onset Seizures
NCT05067634	PHASE3	ACTIVE_NOT_RECRUITING	Safety and Efficacy Study of Cenobamate in Pediatric Subjects 2-17 Years of Age With Partial-onset (Focal) Seizures
NCT05718817	PHASE3	ENROLLING_BY_INVITATION	An Open-label Study of XEN1101 in Epilepsy
NCT07505004	PHASE3	RECRUITING	Double-blind, Randomized Clinical Trial Evaluating the Efficacy and Safety of Vormatrigine in Adults With Focal Seizures
NCT07563881	PHASE3	RECRUITING	Study Evaluating the Efficacy and Safety of RAP-219 in Adult Participants With Focal Seizures FOCUS-1