AMIGO3

Summary

AMIGO3 (adhesion molecule with Ig like domain 3, HGNC:24075) is a protein-coding gene on chromosome 3p21.31, encoding Amphoterin-induced protein 3 (Q86WK7). May mediate heterophilic cell-cell interaction.

Predicted to be involved in brain development; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; and positive regulation of synapse assembly. Predicted to be active in membrane.

Source: NCBI Gene 386724 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 99 total — 3 pathogenic
• MANE Select transcript: NM_198722

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24075
Approved symbol	AMIGO3
Name	adhesion molecule with Ig like domain 3
Location	3p21.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000176020
Ensembl biotype	protein_coding
OMIM	615691
Entrez	386724

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000320431

RefSeq mRNA: 1 — MANE Select: NM_198722 NM_198722

CCDS: CCDS33759

Canonical transcript exons

ENST00000320431 — 1 exons

Exon	Start	End
ENSE00001241276	49716829	49719684

Expression profiles

Bgee: expression breadth ubiquitous, 129 present calls, max score 81.25.

FANTOM5 (CAGE): breadth broad, TPM avg 1.6192 / max 81.5612, expressed in 603 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42270	1.6192	603

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.25	silver quality
hindlimb stylopod muscle	UBERON:0004252	69.71	gold quality
stromal cell of endometrium	CL:0002255	67.92	gold quality
adenohypophysis	UBERON:0002196	67.28	gold quality
pituitary gland	UBERON:0000007	67.16	gold quality
skeletal muscle tissue	UBERON:0001134	66.25	gold quality
granulocyte	CL:0000094	66.08	gold quality
skin of abdomen	UBERON:0001416	65.22	gold quality
skin of leg	UBERON:0001511	65.17	gold quality
zone of skin	UBERON:0000014	64.86	gold quality
right lobe of liver	UBERON:0001114	64.77	gold quality
lower esophagus mucosa	UBERON:0035834	64.22	gold quality
mucosa of stomach	UBERON:0001199	63.10	gold quality
right hemisphere of cerebellum	UBERON:0014890	62.72	gold quality
sural nerve	UBERON:0015488	62.48	silver quality
left adrenal gland	UBERON:0001234	62.13	gold quality
cerebellar hemisphere	UBERON:0002245	62.13	gold quality
cerebellum	UBERON:0002037	62.05	gold quality
cerebellar cortex	UBERON:0002129	61.92	gold quality
right adrenal gland cortex	UBERON:0035827	61.78	gold quality
ventricular zone	UBERON:0003053	61.57	gold quality
blood	UBERON:0000178	61.49	gold quality
mucosa of transverse colon	UBERON:0004991	61.48	gold quality
right adrenal gland	UBERON:0001233	60.99	gold quality
muscle of leg	UBERON:0001383	60.91	gold quality
left uterine tube	UBERON:0001303	60.76	gold quality
left adrenal gland cortex	UBERON:0035825	60.57	gold quality
muscle tissue	UBERON:0002385	60.39	gold quality
gastrocnemius	UBERON:0001388	59.53	gold quality
esophagus mucosa	UBERON:0002469	59.50	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting AMIGO3, 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-589-3P	99.91	69.62	2088
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-6510-5P	99.14	66.59	1081
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-518C-5P	98.53	69.20	1640
HSA-MIR-4708-5P	97.77	67.82	831
HSA-MIR-4761-3P	96.27	66.26	524
HSA-MIR-3165	96.18	66.22	473
HSA-MIR-4522	95.76	66.23	742
HSA-MIR-4520-5P	93.54	65.23	140
HSA-MIR-4649-5P	93.02	63.85	141
HSA-MIR-6729-5P	93.02	62.76	138
HSA-MIR-3944-3P	91.01	62.27	44

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	amigo3	ENSDARG00000074469
mus_musculus	Amigo3	ENSMUSG00000032593
rattus_norvegicus	Amigo3	ENSRNOG00000064183

Paralogs (2): AMIGO2 (ENSG00000139211), AMIGO1 (ENSG00000181754)

Protein

Protein identifiers

Amphoterin-induced protein 3 — Q86WK7 (reviewed: Q86WK7)

Alternative names: AMIGO-3, Alivin-3

All UniProt accessions (1): Q86WK7

UniProt curated annotations — full annotation on UniProt →

Function. May mediate heterophilic cell-cell interaction. May contribute to signal transduction through its intracellular domain.

Subunit / interactions. Binds AMIGO1 or AMIGO2.

Subcellular location. Membrane.

Similarity. Belongs to the immunoglobulin superfamily. AMIGO family.

RefSeq proteins (1): NP_942015* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR031283	AMIGO	Family
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily

Pfam: PF00560, PF13855

UniProt features (26 total): repeat 6, glycosylation site 5, disulfide bond 5, domain 3, topological domain 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86WK7-F1	73.90	0.37

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 (5): 34–40, 38–47, 223–251, 225–273, 300–352

Glycosylation sites (5): 107, 272, 301, 362, 368

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 50 (showing top): GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOBP_SYNAPSE_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_CELL_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_CELL_JUNCTION_ASSEMBLY

GO Biological Process (6): heterophilic cell-cell adhesion (GO:0007157), brain development (GO:0007420), negative regulation of neuron projection development (GO:0010977), positive regulation of synapse assembly (GO:0051965), cell adhesion (GO:0007155), nervous system development (GO:0007399)

GO Molecular Function (2): protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cell-cell adhesion	1
central nervous system development	1
animal organ development	1
head development	1
regulation of neuron projection development	1
neuron projection development	1
negative regulation of cell projection organization	1
synapse assembly	1
positive regulation of nervous system development	1
regulation of synapse assembly	1
positive regulation of cell junction assembly	1
cellular process	1
system development	1
cellular anatomical structure	1

Protein interactions and networks

STRING

732 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AMIGO3	TMEM131	Q92545	535
AMIGO3	LINGO1	Q96FE5	490
AMIGO3	NGFR	P08138	476
AMIGO3	ZDHHC14	Q8IZN3	472
AMIGO3	OMG	P23515	418
AMIGO3	CYTH2	Q99418	396
AMIGO3	RTN4	Q9NQC3	395
AMIGO3	BRSK2	Q8IWQ3	388
AMIGO3	GPR137	Q96N19	371
AMIGO3	SH3BP2	P78314	360
AMIGO3	CLHC1	Q8NHS4	333
AMIGO3	CDHR4	A6H8M9	327
AMIGO3	TNFRSF19	Q9NS68	321
AMIGO3	TRAPPC3L	Q5T215	309
AMIGO3	MAG	P20916	306

IntAct

11 interactions, top by confidence:

A	B	Type	Score
GTPBP8	HSPD1	psi-mi:“MI:0914”(association)	0.530
AMIGO3	CANX	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
PTPRK	MANBA	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
C1orf54	AGRN	psi-mi:“MI:0914”(association)	0.350
AMIGO3	CLGN	psi-mi:“MI:0914”(association)	0.350
GALNT10	PLXNA2	psi-mi:“MI:0914”(association)	0.350

BioGRID (35): AMIGO3 (Affinity Capture-MS), AMIGO3 (Affinity Capture-MS), C9orf91 (Affinity Capture-MS), GOLPH3 (Affinity Capture-MS), AMIGO3 (Affinity Capture-MS), C1QL4 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), SEL1L (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), CANX (Affinity Capture-MS), SLC22A18 (Affinity Capture-MS), OMA1 (Affinity Capture-MS), ZDHHC17 (Affinity Capture-MS), AMIGO3 (Affinity Capture-Western), AMIGO3 (Affinity Capture-Western)

ESM2 similar proteins: A3KNN3, A4IFA6, A6H789, A6H793, A6NDA9, A8WHP9, E7FE13, O08644, O08742, O08770, O14498, O15197, P0C0K6, P0C0K7, P14616, P14617, P21709, P54760, P54761, P59034, P59035, Q149C3, Q3ZBI5, Q5BK65, Q5JZY3, Q5NVQ6, Q5R7M3, Q60750, Q62178, Q64716, Q6GU68, Q6P7C4, Q6PFC5, Q6UY18, Q80ZD5, Q86SJ2, Q86WK7, Q86YC3, Q8BGX3, Q8BMT4

Diamond homologs: A6H789, D3ZTV3, G5EFX6, O02678, O15335, O43155, O46377, O46378, O46379, O46390, O46403, O46542, O55226, O70210, O75093, O75094, O88279, O88280, O94813, P07585, P0DM44, P21793, P21809, P21810, P28653, P28654, P28675, P47853, Q01129, Q27972, Q28888, Q29393, Q3ZBN5, Q5R1V9, Q5RI43, Q7TQ62, Q80TR4, Q86WK7, Q8BLU0, Q8VCH9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	90
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1068732	NC_000003.11:g.(?48507870)(50340407_?)del	Pathogenic
1456135	NC_000003.11:g.(?49547968)(50685477_?)del	Pathogenic
980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	Pathogenic

SpliceAI

424 predictions. Top by Δscore:

Variant	Effect	Δscore
3:49718384:T:TA	acceptor_gain	0.9800
3:49719266:TCG:T	donor_gain	0.9800
3:49718378:T:TA	acceptor_gain	0.9700
3:49718563:GTTGC:G	donor_gain	0.9600
3:49718780:T:TA	donor_gain	0.9600
3:49718781:G:GA	donor_gain	0.9600
3:49719285:C:T	donor_gain	0.9500
3:49719621:TTCCC:T	donor_gain	0.9400
3:49717343:G:GT	donor_gain	0.9300
3:49718156:C:G	donor_gain	0.9300
3:49718153:GTGC:G	donor_gain	0.9200
3:49718154:TGCT:T	donor_gain	0.9200
3:49718155:GCTG:G	donor_gain	0.9200
3:49718538:C:T	donor_gain	0.9200
3:49718390:AGGCG:A	acceptor_gain	0.9100
3:49718391:GGCGG:G	acceptor_gain	0.9100
3:49719083:T:TA	donor_gain	0.9100
3:49718568:A:AG	donor_gain	0.8900
3:49718569:G:GG	donor_gain	0.8900
3:49718674:G:GT	donor_gain	0.8900
3:49719187:GTC:G	donor_gain	0.8900
3:49719188:TCT:T	donor_gain	0.8900
3:49718385:G:A	acceptor_gain	0.8700
3:49718782:G:GG	donor_gain	0.8700
3:49718379:G:A	acceptor_gain	0.8500
3:49718386:GTGCA:G	acceptor_loss	0.8500
3:49718387:TGCA:T	acceptor_loss	0.8500
3:49718388:GCA:G	acceptor_loss	0.8500
3:49718389:CAGGC:C	acceptor_loss	0.8500
3:49718390:A:T	acceptor_loss	0.8500

AlphaMissense

3238 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:49718533:C:A	W311C	0.993
3:49718533:C:G	W311C	0.993
3:49718098:A:C	F456L	0.990
3:49718098:A:T	F456L	0.990
3:49718100:A:G	F456L	0.990
3:49718456:A:G	L337S	0.990
3:49718417:A:C	F350C	0.989
3:49718535:A:G	W311R	0.988
3:49718535:A:T	W311R	0.988
3:49718417:A:G	F350S	0.983
3:49718410:G:C	C352W	0.982
3:49718295:A:G	C391R	0.977
3:49718412:A:G	C352R	0.977
3:49718411:C:G	C352S	0.976
3:49718412:A:T	C352S	0.976
3:49718286:C:G	G394R	0.975
3:49718099:A:C	F456C	0.974
3:49718766:A:G	W234R	0.974
3:49718766:A:T	W234R	0.974
3:49718416:G:C	F350L	0.972
3:49718416:G:T	F350L	0.972
3:49718418:A:G	F350L	0.972
3:49718411:C:T	C352Y	0.970
3:49718567:C:T	C300Y	0.966
3:49718764:C:A	W234C	0.966
3:49718764:C:G	W234C	0.966
3:49718809:G:C	N219K	0.965
3:49718809:G:T	N219K	0.965
3:49718285:C:T	G394D	0.963
3:49718567:C:G	C300S	0.963

dbSNP variants (sampled 300 via entrez): RS1000783242 (3:49720182 G>A,C), RS1000848134 (3:49721336 C>T), RS1001399602 (3:49721226 T>G), RS1002239690 (3:49719828 A>G), RS1002489068 (3:49716617 T>G), RS1003244818 (3:49718796 C>A), RS1003912296 (3:49716746 G>A,C), RS1003983678 (3:49716946 AC>A,ACC), RS1005096711 (3:49720342 G>A,T), RS1008348412 (3:49721374 A>G), RS1008613216 (3:49720158 A>C,G), RS1009054923 (3:49719666 C>G,T), RS1009101756 (3:49719866 C>G,T), RS1009222175 (3:49716640 G>A), RS1009607759 (3:49720374 T>G)

Disease associations

OMIM: gene MIM:615691 | disease phenotypes: MIM:192315, MIM:225750, MIM:610448

GenCC curated gene-disease

Mondo (4): retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (MONDO:0008641), Aicardi-Goutieres syndrome 1 (MONDO:0009165), chilblain lupus 1 (MONDO:0012500), developmental and epileptic encephalopathy (MONDO:0100620)

Orphanet (5): Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (Orphanet:247691), Cerebroretinal vasculopathy (Orphanet:3421), Aicardi-Goutières syndrome (Orphanet:51), HERNS syndrome (Orphanet:63261), Hereditary vascular retinopathy (Orphanet:71291)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000964_6	Ulcerative colitis	2.000000e-17
GCST006920_7	Regular attendance at a gym or sports club	6.000000e-10
GCST006922_9	Regular attendance at a religious group	3.000000e-08
GCST007044_11	Extremely high intelligence	4.000000e-08
GCST007559_24	Sleep duration (short sleep)	3.000000e-08
GCST008357_20	Mood instability	4.000000e-11
GCST008512_6	Multisite chronic pain	8.000000e-10
GCST010698_80	Subcortical volume (min-P)	3.000000e-24
GCST010699_110	Brain morphology (min-P)	4.000000e-08
GCST010701_52	Cortical surface area (MOSTest)	1.000000e-16
GCST010702_36	Subcortical volume (MOSTest)	1.000000e-10
GCST010703_262	Brain morphology (MOSTest)	2.000000e-13

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0009592	social interaction measurement
EFO:0004337	intelligence
EFO:0008475	mood instability measurement
EFO:0010100	multisite chronic pain
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566007	Vasculopathy, Retinal, With Cerebral Leukodystrophy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, increases expression	1
bisphenol A	affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
jinfukang	decreases expression, affects cotreatment	1
(+)-JQ1 compound	increases expression	1
2,6-dichloro-(1,4)benzoquinone	increases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	decreases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Rotenone	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	increases expression	1
Valproic Acid	increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Okadaic Acid	increases expression	1
Acrylamide	increases expression	1
S-Nitrosoglutathione	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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
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)
NCT04289467	PHASE2	RECRUITING	Treatment of Refractory Infantile Spasms With Fenfluramine
NCT05626634	PHASE2	COMPLETED	Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
NCT02723448	PHASE1	COMPLETED	Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy
NCT04727970	PHASE1	COMPLETED	Tricaprilin Infantile Spasms Pilot Study
NCT06700811	PHASE1	RECRUITING	Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
NCT03876444	PHASE2/PHASE3	UNKNOWN	Intravenous Methylprednisolone Versus Oral Prednisolone for Infantile Spasms
NCT05279118	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Ketogenic Diet vs ACTH for the Treatment of Children With West Syndrome
NCT05364021	PHASE1/PHASE2	COMPLETED	Study to Investigate LP352 in Subjects With Developmental and Epileptic Encephalopathies
NCT06983158	PHASE1/PHASE2	SUSPENDED	A Clinical Trial of CAP-002 Gene Therapy in Pediatric Patients With Syntaxin-Binding Protein 1 (STXBP1) Encephalopathy
NCT04937062	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy
NCT04302116	Not specified	RECRUITING	Vigabatrin With High Dose Prednisolone Combination Therapy vs Vigabatrin Alone for Infantile Spasm
NCT05538936	Not specified	COMPLETED	The Effect of Spa and Massage on Babies on Colic Symptoms
NCT06149663	Not specified	AVAILABLE	Intermediate-Size Expanded Access Protocol (EAP) for LP352
NCT06266234	Not specified	RECRUITING	Characterization by Automated System on Infantile Spasmes
NCT06380192	Not specified	RECRUITING	Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
NCT07396883	Not specified	NOT_YET_RECRUITING	Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
NCT07413211	Not specified	RECRUITING	Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
NCT07531511	Not specified	NOT_YET_RECRUITING	SLC6A1-NDD Prospective Longitudinal Natural History Study
NCT07585643	Not specified	NOT_YET_RECRUITING	IBIS - Investigating Reliability of BIS and SEDLINE Monitoring in Children With Developmental and Epileptic Encephalopathies (DEE).