ST3GAL3

Summary

ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3, HGNC:10866) is a protein-coding gene on chromosome 1p34.1, encoding CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase (Q11203). Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids.

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene.

Source: NCBI Gene 6487 — RefSeq curated summary.

At a glance

• Gene–disease (curated): developmental and epileptic encephalopathy, 15 (Strong, GenCC) — +4 more curated relationships
• GWAS associations: 27
• Clinical variants (ClinVar): 415 total — 11 pathogenic, 12 likely-pathogenic
• Phenotypes (HPO): 18
• Druggable target: yes
• MANE Select transcript: NM_006279

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10866
Approved symbol	ST3GAL3
Name	ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Location	1p34.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000126091
Ensembl biotype	protein_coding
OMIM	606494
Entrez	6487

Gene structure

Transcript identifiers

Ensembl transcripts: 100 — 58 protein_coding, 31 nonsense_mediated_decay, 10 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000262915, ENST00000330208, ENST00000332628, ENST00000335430, ENST00000347631, ENST00000351035, ENST00000353126, ENST00000361392, ENST00000361400, ENST00000361746, ENST00000361812, ENST00000372362, ENST00000372365, ENST00000372366, ENST00000372367, ENST00000372368, ENST00000372369, ENST00000372372, ENST00000372374, ENST00000461066, ENST00000461375, ENST00000469715, ENST00000479383, ENST00000484868, ENST00000489897, ENST00000490502, ENST00000490541, ENST00000495482, ENST00000528371, ENST00000530154, ENST00000530581, ENST00000531451, ENST00000531816, ENST00000531993, ENST00000532911, ENST00000533212, ENST00000533933, ENST00000533997, ENST00000545417, ENST00000642194, ENST00000642331, ENST00000642504, ENST00000642780, ENST00000642934, ENST00000642949, ENST00000643252, ENST00000643283, ENST00000643597, ENST00000643813, ENST00000643886, ENST00000643989, ENST00000644016, ENST00000644195, ENST00000644287, ENST00000644378, ENST00000644645, ENST00000644922, ENST00000645012, ENST00000645034, ENST00000645117, ENST00000645142, ENST00000645161, ENST00000645165, ENST00000645394, ENST00000645640, ENST00000645644, ENST00000645670, ENST00000645705, ENST00000646027, ENST00000646032, ENST00000646069, ENST00000646096, ENST00000646109, ENST00000646113, ENST00000646416, ENST00000646686, ENST00000646776, ENST00000646971, ENST00000647128, ENST00000647134, ENST00000647148, ENST00000647237, ENST00000647299, ENST00000647482, ENST00000647503, ENST00000857183, ENST00000857184, ENST00000857185, ENST00000857186, ENST00000857187, ENST00000857188, ENST00000857189, ENST00000961658, ENST00000961659, ENST00000961660, ENST00000961661, ENST00000961662, ENST00000961663, ENST00000961664, ENST00000961665

RefSeq mRNA: 23 — MANE Select: NM_006279 NM_001270459, NM_001270460, NM_001270461, NM_001270462, NM_001270463, NM_001270464, NM_001270465, NM_001270466, NM_001350619, NM_001350620, NM_001350621, NM_001363573, NM_001410781, NM_006279, NM_174963, NM_174964, NM_174965, NM_174966, NM_174967, NM_174968, NM_174969, NM_174970, NM_174971

CCDS: CCDS492, CCDS493, CCDS494, CCDS495, CCDS496, CCDS497, CCDS498, CCDS499, CCDS500, CCDS53310, CCDS57988, CCDS57989, CCDS57990, CCDS57991, CCDS57992, CCDS57993, CCDS57994, CCDS85961, CCDS85962, CCDS85964, CCDS85965, CCDS90936

Canonical transcript exons

ENST00000347631 — 12 exons

Exon	Start	End
ENSE00001080540	43792102	43792149
ENSE00003477329	43920404	43920550
ENSE00003481997	43899541	43899727
ENSE00003517450	43920782	43920928
ENSE00003548180	43898235	43898298
ENSE00003550212	43894383	43894477
ENSE00003598529	43736233	43736380
ENSE00003617071	43814891	43814933
ENSE00003658449	43838219	43838311
ENSE00003676190	43899168	43899263
ENSE00003899126	43930132	43931159
ENSE00003900249	43707536	43707693

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 95.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.1666 / max 161.7226, expressed in 1763 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2549	13.6982	1762
2554	0.2735	14
2550	0.1189	45
2553	0.0433	10
2555	0.0184	7
2551	0.0143	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	95.10	gold quality
gastrocnemius	UBERON:0001388	94.83	gold quality
muscle of leg	UBERON:0001383	94.55	gold quality
left testis	UBERON:0004533	92.36	gold quality
cortical plate	UBERON:0005343	92.33	gold quality
right testis	UBERON:0004534	92.31	gold quality
right frontal lobe	UBERON:0002810	91.96	gold quality
ganglionic eminence	UBERON:0004023	91.96	gold quality
embryo	UBERON:0000922	91.95	gold quality
apex of heart	UBERON:0002098	91.38	gold quality
epithelium of nasopharynx	UBERON:0001951	91.37	gold quality
ventricular zone	UBERON:0003053	91.19	gold quality
adrenal tissue	UBERON:0018303	91.18	gold quality
anterior cingulate cortex	UBERON:0009835	90.46	gold quality
sperm	CL:0000019	90.33	silver quality
prefrontal cortex	UBERON:0000451	90.10	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.79	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.21	gold quality
lower esophagus	UBERON:0013473	89.14	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.09	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.88	gold quality
nucleus accumbens	UBERON:0001882	88.57	gold quality
hypothalamus	UBERON:0001898	88.53	gold quality
popliteal artery	UBERON:0002250	88.50	gold quality
tibial artery	UBERON:0007610	88.50	gold quality
cerebellar cortex	UBERON:0002129	88.40	gold quality
cerebellar hemisphere	UBERON:0002245	88.40	gold quality
testis	UBERON:0000473	88.31	gold quality
right coronary artery	UBERON:0001625	87.93	gold quality
aorta	UBERON:0000947	87.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-75688	yes	241.92
E-ANND-3	yes	6.56

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC, SP1

miRNA regulators (miRDB)

60 targeting ST3GAL3, 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-4481	100.00	66.42	1669
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-6744-3P	99.22	64.41	972
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-3688-5P	99.12	69.67	1091
HSA-MIR-4757-5P	99.12	64.51	981
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987

Literature-anchored findings (GeneRIF, showing 19)

• Characterization of the promoter region of the ST3Gal III gene. (PMID:12697334)
• 19 different transcripts of ST3GalIII were isolated and cloned; tissue distribution analysis showed complex patterns in neural and muscular tissues (PMID:12815231)
• High levels of ST3GAL-III in the tumor tissue correlated with secondary local tumor recurrence (p = 0.005; p = 0.012). (PMID:12931020)
• Identification of a new ST3Gal3 transcript from fetal brain. (PMID:15316282)
• Expression of ST3Gal IV in several gastrointestinal cell lines is correlated with the expression of sialyl Lewis x at the cell surface. (PMID:19781661)
• ST3GAL3 mutations impair the development of higher cognitive functions. (PMID:21907012)
• Dysfunctional ST3GAL3 may result in perturbation of the posttranslational sialylation of proteins in these pathways (PMID:23252400)
• CA19.9 appears as a physiological product whose synthesis strongly depends on the tissue specific and epigenetically-regulated expression of B3GALT5 and ST3GAL3. (PMID:27535614)
• ST3Gal III modulates breast cancer cell adhesion and invasion by altering the expression of invasion-related molecules. (PMID:27779707)
• ST3Gal3 knockdown synergistically enhanced cisplatin-induced apoptosis in ovarian cancer cells (PMID:27871859)
• Data show that endometrial tissues at secretory phase expressed a 4-fold higher ST3 beta-galactoside alpha-2,3-sialyltransferase 3 protein (ST3Gal3) level relative to the tissues at proliferative phase. (PMID:30220088)
• A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9. (PMID:31584066)
• Silencing of ST3Gal3 by small interfering RNA reversed these effects and increased the protein levels of caspase8/3, which may contribute to paclitaxelinduced apoptosis. The results of the present study suggested that ST3Gal3 was a target for paclitaxel-related resistance during ovarian cancer chemotherapy. (PMID:31702036)
• these were increased in the ST3GAL3 KO and ST3GAL6 KO cells, whereas the alpha2,3-sialylation levels of EGFR were significantly decreased in the ST3GAL6 KO cells (PMID:31914669)
• ST3GAL3 is associated with ADHD risk. (PMID:32046534)
• A novel variant of ST3GAL3 causes non-syndromic autosomal recessive intellectual disability in Iranian patients. (PMID:32666583)
• ST3GAL3 Promotes the Inflammatory Response of Fibroblast-Like Synoviocytes in Rheumatoid Arthritis by Activating the TLR9/MyD88 Pathway. (PMID:36405992)
• The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy. (PMID:37067065)
• Human ST3Gal II and ST6GalNAc IV genes increase human serum-mediated cytotoxicity to xenogeneic cells. (PMID:38602029)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	st3gal3b	ENSDARG00000015252
danio_rerio	st3gal3a	ENSDARG00000015374
mus_musculus	St3gal3	ENSMUSG00000028538
rattus_norvegicus	St3gal3	ENSRNOG00000019843

Paralogs (14): ST3GAL1 (ENSG00000008513), ST3GAL6 (ENSG00000064225), ST6GALNAC1 (ENSG00000070526), ST6GALNAC2 (ENSG00000070731), ST6GAL1 (ENSG00000073849), ST3GAL4 (ENSG00000110080), ST3GAL5 (ENSG00000115525), ST6GALNAC5 (ENSG00000117069), C20orf173 (ENSG00000125975), ST6GALNAC4 (ENSG00000136840), ST6GAL2 (ENSG00000144057), ST3GAL2 (ENSG00000157350), ST6GALNAC6 (ENSG00000160408), ST6GALNAC3 (ENSG00000184005)

Protein

Protein identifiers

CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase — Q11203 (reviewed: Q11203)

Alternative names: Beta-galactoside alpha-2,3-sialyltransferase 3, Gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase, N-acetyllactosaminide alpha-2,3-sialyltransferase, ST3Gal III, ST3N, Sialyltransferase 6

All UniProt accessions (38): Q11203, A0A2R8Y244, A0A2R8Y4W6, A0A2R8Y4Y4, A0A2R8Y682, A0A2R8Y6H4, A0A2R8Y6K5, A0A2R8Y6L4, A0A2R8Y6U3, A0A2R8Y6U8, A0A2R8Y717, A0A2R8Y732, A0A2R8Y7B2, A0A2R8Y7D5, A0A2R8Y7D8, A0A2R8Y7H6, A0A2R8Y7J2, A0A2R8Y7Z2, A0A2R8Y847, A0A2R8YCV7, A0A2R8YDA9, A0A2R8YDB0, A0A2R8YDJ6, A0A2R8YE42, A0A2R8YF05, A0A2R8YFA0, A0A2R8YFI8, A0A2R8YFM5, A0A2R8YFP6, A0A2R8YH87, A0A2U3TZH9, A0A2U3TZK9, A0A2U3TZM2, A0A2U3U052, E9PJI3, E9PJX2, E9PNN5, H0YEP7

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc.

Subcellular location. Golgi apparatus. Golgi stack membrane. Secreted.

Tissue specificity. Highly expressed in adult skeletal muscle and in all fetal tissues examined and to a much lesser extent in placenta, lung and liver.

Post-translational modifications. The soluble form derives from the membrane form by proteolytic processing.

Disease relevance. Intellectual developmental disorder, autosomal recessive 12 (MRT12) [MIM:611090] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry. Developmental and epileptic encephalopathy 15 (DEE15) [MIM:615006] A form of epilepsy that manifests in the neonatal or the early infantile period as severely impaired cognitive and motor development, due to recurrent clinical seizures or prominent interictal epileptiform discharges. Patients develop infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which are accompanied by hypsarrhythmia on EEG. Other features include poor eye contact, hypotonia, primitive reflexes, and irritability. Seizures evolve clinically to Lennox-Gastaut syndrome. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein glycosylation.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the glycosyltransferase 29 family.

Isoforms (26)

UniProt ID	Names	Canonical?
Q11203-1	B1	yes
Q11203-2	A1
Q11203-3	A7
Q11203-4	A8
Q11203-5	B1-90
Q11203-6	B1+32
Q11203-7	B3
Q11203-8	B4
Q11203-9	B4+173
Q11203-10	B5+26
Q11203-11	B5+173
Q11203-12	B7
Q11203-13	B8
Q11203-14	B10
Q11203-15	C1
Q11203-16	C4
Q11203-17	C5
Q11203-18	C7
Q11203-19	C8
Q11203-20	C9
Q11203-21	C11
Q11203-22	C12
Q11203-23	D2+26
Q11203-24	D5
Q11203-25	E1
Q11203-26	E3+32

RefSeq proteins (23): NP_001257388, NP_001257389, NP_001257390, NP_001257391, NP_001257392, NP_001257393, NP_001257394, NP_001257395, NP_001337548, NP_001337549, NP_001337550, NP_001350502, NP_001397710, NP_006270, NP_777623, NP_777624, NP_777625, NP_777626, NP_777627, NP_777628, NP_777629, NP_777630, NP_777631 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001675	Glyco_trans_29	Family
IPR012163	Sialyl_trans	Family
IPR038578	GT29-like_sf	Homologous_superfamily
IPR051142	Glycosyltransferase_29	Family

Pfam: PF00777

Enzyme classification (BRENDA):

• EC 2.4.99.2 — beta-D-galactosyl-(1->3)-N-acetyl-beta-D-galactosaminide alpha-2,3-sialyltransferase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)
• EC 2.4.99.6 — N-acetyllactosaminide alpha-2,3-sialyltransferase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + CMP-N-acetyl-beta-neuraminate = an N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + CMP + H(+) (RHEA:52316)

UniProt features (42 total): splice variant 28, sequence conflict 4, sequence variant 3, topological domain 2, glycosylation site 2, chain 1, transmembrane region 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q11203-F1	90.87	0.74

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 (1): 160–314

Glycosylation sites (2): 80, 171

Function

Pathways and Gene Ontology

Reactome pathways

40 pathways

ID	Pathway
R-HSA-1912420	Pre-NOTCH Processing in Golgi
R-HSA-2022854	Keratan sulfate biosynthesis
R-HSA-3656243	Defective ST3GAL3 causes MCT12 and EIEE15
R-HSA-4085001	Sialic acid metabolism
R-HSA-9037629	Lewis blood group biosynthesis
R-HSA-9683673	Maturation of protein 3a
R-HSA-9694548	Maturation of spike protein
R-HSA-9694719	Maturation of protein 3a
R-HSA-977068	Termination of O-glycan biosynthesis
R-HSA-9840309	Glycosphingolipid biosynthesis
R-HSA-1430728	Metabolism
R-HSA-157118	Signaling by NOTCH
R-HSA-162582	Signal Transduction
R-HSA-1630316	Glycosaminoglycan metabolism
R-HSA-1638074	Keratan sulfate/keratin metabolism
R-HSA-1643685	Disease
R-HSA-1660662	Glycosphingolipid metabolism
R-HSA-1912422	Pre-NOTCH Expression and Processing
R-HSA-3560782	Diseases associated with glycosaminoglycan metabolism
R-HSA-3781865	Diseases of glycosylation
R-HSA-392499	Metabolism of proteins
R-HSA-428157	Sphingolipid metabolism
R-HSA-446193	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-446219	Synthesis of substrates in N-glycan biosythesis
R-HSA-5173105	O-linked glycosylation
R-HSA-556833	Metabolism of lipids
R-HSA-5663205	Infectious disease
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 177 (showing top): GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, REACTOME_SIGNALING_BY_NOTCH, AAGCAAT_MIR137, GGGNRMNNYCAT_UNKNOWN, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, CACCAGC_MIR138, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, CAGCAGG_MIR370, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, GOBP_GLYCOSPHINGOLIPID_BIOSYNTHETIC_PROCESS, chr1p34

GO Biological Process (7): glycosphingolipid biosynthetic process (GO:0006688), oligosaccharide biosynthetic process (GO:0009312), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), keratan sulfate proteoglycan biosynthetic process (GO:0018146), viral protein processing (GO:0019082), obsolete protein glycosylation (GO:0006486), obsolete ganglioside biosynthetic process via lactosylceramide (GO:0010706)

GO Molecular Function (7): beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836), N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118), sialyltransferase activity (GO:0008373), beta-D-galactosyl-(1->3)-N-acetyl-beta-D-galactosaminide alpha-2,3- sialyltransferase activity (GO:0047288), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (5): Golgi membrane (GO:0000139), extracellular region (GO:0005576), Golgi cisterna membrane (GO:0032580), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-16 pathways:

Category	Pathways
Translation of Structural Proteins	2
Pre-NOTCH Expression and Processing	1
Keratan sulfate/keratin metabolism	1
Diseases associated with glycosaminoglycan metabolism	1
Synthesis of substrates in N-glycan biosythesis	1
Blood group systems biosynthesis	1
Translation of Structural Proteins	1
O-linked glycosylation of mucins	1
Glycosphingolipid metabolism	1
Signal Transduction	1
Metabolism of carbohydrates and carbohydrate derivatives	1
Glycosaminoglycan metabolism	1
Sphingolipid metabolism	1
Signaling by NOTCH	1
Diseases of glycosylation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sialyltransferase activity	3
cellular anatomical structure	2
glycosphingolipid metabolic process	1
glycolipid biosynthetic process	1
sphingolipid biosynthetic process	1
oligosaccharide metabolic process	1
carbohydrate biosynthetic process	1
protein O-linked glycosylation	1
proteoglycan biosynthetic process	1
keratan sulfate proteoglycan metabolic process	1
viral process	1
viral gene expression	1
glycosyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
organelle membrane	1
Golgi cisterna	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

850 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ST3GAL3	MRTO4	Q9UKD2	901
ST3GAL3	FUT3	P21217	640
ST3GAL3	B4GALT1	P15291	613
ST3GAL3	FUT6	P51993	612
ST3GAL3	FUT7	Q11130	592
ST3GAL3	GCNT1	Q02742	581
ST3GAL3	B4GALT2	O60909	571
ST3GAL3	FUT5	Q11128	569
ST3GAL3	MGAT5	Q09328	561
ST3GAL3	MGAT2	Q10469	558
ST3GAL3	NEU4	Q8WWR8	547
ST3GAL3	FUT8	Q9BYC5	546
ST3GAL3	NEU3	Q9UQ49	545
ST3GAL3	B3GNT2	Q9NY97	532
ST3GAL3	C1GALT1	Q9NS00	526

IntAct

22 interactions, top by confidence:

A	B	Type	Score
ST3GAL3	DPP9	psi-mi:“MI:0915”(physical association)	0.560
ST3GAL3	MAGEB6	psi-mi:“MI:0915”(physical association)	0.560
SERPINB9	ST3GAL3	psi-mi:“MI:0915”(physical association)	0.500
SERPINB9	PPIAL4C	psi-mi:“MI:0914”(association)	0.350
CMKLR1	GPR89A	psi-mi:“MI:0914”(association)	0.350
KIR2DL1	STX6	psi-mi:“MI:0914”(association)	0.350
TIMD4	SEMG1	psi-mi:“MI:0914”(association)	0.350
RABEPK	ST3GAL3	psi-mi:“MI:0914”(association)	0.350
ST3GAL3	C6orf120	psi-mi:“MI:0914”(association)	0.350
TIMD4	ST3GAL3	psi-mi:“MI:0914”(association)	0.350
ST3GAL3	COL1A1	psi-mi:“MI:0914”(association)	0.350
ST3GAL3	RPL8	psi-mi:“MI:0915”(physical association)	0.000
ST3GAL3	ACTG1	psi-mi:“MI:0915”(physical association)	0.000
ST3GAL3	SCAMP2	psi-mi:“MI:0915”(physical association)	0.000
ST3GAL3	ZBTB5	psi-mi:“MI:0915”(physical association)	0.000
ST3GAL3	TTR	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (19): ST3GAL3 (Affinity Capture-RNA), ST3GAL3 (Affinity Capture-RNA), ACTG1 (Two-hybrid), SCAMP2 (Two-hybrid), ZBTB5 (Two-hybrid), RPL8 (Two-hybrid), ST3GAL3 (Affinity Capture-RNA), SPCS1 (Affinity Capture-MS), ST3GAL3 (Affinity Capture-MS), ST3GAL3 (Affinity Capture-MS), ST3GAL3 (Affinity Capture-MS), ST3GAL3 (Affinity Capture-MS), C6orf120 (Affinity Capture-MS), ST3GAL3 (Affinity Capture-MS), GALNT12 (Affinity Capture-MS)

ESM2 similar proteins: A2A699, A2BD09, A5D7T4, A8MVW0, B0BN44, O77681, O88829, P0CG36, P0CG37, P15907, P51693, P59383, P61132, P70277, P97325, Q03157, Q07105, Q11203, Q3UPI1, Q3UY90, Q5K027, Q5QQ37, Q64685, Q66NC0, Q68BL7, Q6P7B4, Q6UWH4, Q701R2, Q701R3, Q701R4, Q70D51, Q766D5, Q76K27, Q76KP1, Q80WV3, Q866Y3, Q86VZ4, Q8BHP7, Q8CB67, Q8VCS0

Diamond homologs: A2WX64, A2XVC2, A2ZI41, A5D7T4, O35696, O43173, P61132, P61643, P61644, P61645, P97325, Q02734, Q07977, Q11203, Q2QXM3, Q5K027, Q5QQ37, Q64689, Q64690, Q64692, Q6ZXC9, Q701R0, Q701R1, Q701R2, Q701R3, Q701R4, Q76K27, Q7FA29, Q92183, Q92186, Q92187, Q94DD4, Q96JF0, Q9SGD2, Q9UJ37, O88829, P13721, P15907, P54751, Q02745

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MYC	“up-regulates quantity by expression”	ST3GAL3	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	11
Likely pathogenic	12
Uncertain significance	157
Likely benign	175
Benign	23

Top pathogenic / likely-pathogenic (23)

Variant ID	HGVS	Classification
1371937	NM_006279.5(ST3GAL3):c.529C>T (p.Arg177Ter)	Pathogenic
1398140	NM_006279.5(ST3GAL3):c.302+1del	Pathogenic
1410626	NM_006279.5(ST3GAL3):c.729_730insCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATACATCGTC (p.Tyr244delinsLeuTer)	Pathogenic
1700265	NM_006279.5(ST3GAL3):c.808C>T (p.Arg270Ter)	Pathogenic
2425556	NC_000001.10:g.(?44360035)(44360169_?)del	Pathogenic
30587	NM_006279.5(ST3GAL3):c.38C>A (p.Ala13Asp)	Pathogenic
30588	NM_006279.5(ST3GAL3):c.1108G>T (p.Asp370Tyr)	Pathogenic
3896338	NM_006279.5(ST3GAL3):c.646dup (p.Arg216fs)	Pathogenic
39592	NM_006279.5(ST3GAL3):c.958G>C (p.Ala320Pro)	Pathogenic
995834	NM_006279.5(ST3GAL3):c.660C>A (p.Tyr220Ter)	Pathogenic
996540	NM_006279.5(ST3GAL3):c.891+1del	Pathogenic
1000768	NM_006279.5(ST3GAL3):c.891+1G>T	Likely pathogenic
1339011	NM_006279.5(ST3GAL3):c.397+2T>C	Likely pathogenic
1477582	NM_006279.5(ST3GAL3):c.118+1G>A	Likely pathogenic
1515804	NC_000001.10:g.(?44360035)(44482805_?)del	Likely pathogenic
2011450	NM_006279.5(ST3GAL3):c.210-1G>C	Likely pathogenic
2059700	NM_006279.5(ST3GAL3):c.167-2A>G	Likely pathogenic
2069582	NM_006279.5(ST3GAL3):c.891+2T>G	Likely pathogenic
2700534	NM_006279.5(ST3GAL3):c.558-19_562del	Likely pathogenic
2830629	NM_006279.5(ST3GAL3):c.167-2A>T	Likely pathogenic
3898041	NM_006279.5(ST3GAL3):c.83G>A (p.Trp28Ter)	Likely pathogenic
805790	NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)	Likely pathogenic
833055	NC_000001.10:g.(?44257753)(44365419_?)dup	Likely pathogenic

SpliceAI

3822 predictions. Top by Δscore:

Variant	Effect	Δscore
1:43708041:A:T	donor_gain	1.0000
1:43736381:G:GG	donor_gain	1.0000
1:43739109:G:GG	donor_gain	1.0000
1:43814890:GAGT:G	acceptor_gain	1.0000
1:43814932:CT:C	donor_gain	1.0000
1:43814934:G:GG	donor_gain	1.0000
1:43898233:A:AG	acceptor_gain	1.0000
1:43898234:G:GG	acceptor_gain	1.0000
1:43898234:GACA:G	acceptor_gain	1.0000
1:43899162:CCTCA:C	acceptor_loss	1.0000
1:43899163:CTCA:C	acceptor_loss	1.0000
1:43899164:TCAG:T	acceptor_loss	1.0000
1:43899165:CAGC:C	acceptor_loss	1.0000
1:43899166:A:AG	acceptor_gain	1.0000
1:43899166:A:T	acceptor_loss	1.0000
1:43899167:G:GA	acceptor_gain	1.0000
1:43899167:GC:G	acceptor_gain	1.0000
1:43899539:A:AG	acceptor_gain	1.0000
1:43899539:AGACT:A	acceptor_gain	1.0000
1:43899540:G:GA	acceptor_gain	1.0000
1:43899540:GAC:G	acceptor_gain	1.0000
1:43899540:GACT:G	acceptor_gain	1.0000
1:43899540:GACTG:G	acceptor_gain	1.0000
1:43899723:GAGTG:G	donor_gain	1.0000
1:43899725:GTG:G	donor_gain	1.0000
1:43919980:G:T	donor_gain	1.0000
1:43920494:G:GT	donor_gain	1.0000
1:43920926:G:GT	donor_gain	1.0000
1:43930130:A:AG	acceptor_gain	1.0000
1:43930131:G:GG	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000007611 (1:43874733 C>A,G,T), RS1000040100 (1:43874520 T>C), RS1000083594 (1:43910059 G>C), RS1000090550 (1:43814591 G>A), RS1000094267 (1:43862425 T>A), RS1000148530 (1:43846598 A>C), RS1000175821 (1:43836508 C>T), RS1000187574 (1:43880903 A>G), RS1000194698 (1:43745405 T>G), RS1000201778 (1:43887047 G>A,C), RS1000215178 (1:43788550 C>T), RS1000220829 (1:43743678 C>G,T), RS1000236840 (1:43868011 C>T), RS1000247334 (1:43743249 C>A), RS1000269504 (1:43821499 A>G)

Disease associations

OMIM: gene MIM:606494 | disease phenotypes: MIM:615006, MIM:611090, MIM:308350

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental and epileptic encephalopathy, 15	Strong	Autosomal recessive
intellectual disability, autosomal recessive 12	Strong	Autosomal recessive
complex neurodevelopmental disorder	Moderate	Autosomal recessive
infantile spasms	Supportive	Autosomal dominant
autosomal recessive non-syndromic intellectual disability	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Moderate	AR

Mondo (9): early-infantile DEE (MONDO:0800491), developmental and epileptic encephalopathy (MONDO:0100620), developmental and epileptic encephalopathy, 15 (MONDO:0014003), intellectual disability, autosomal recessive 12 (MONDO:0012612), intellectual disability (MONDO:0001071), developmental and epileptic encephalopathy, 1 (MONDO:0010632), complex neurodevelopmental disorder (MONDO:0100038), infantile spasms (MONDO:0018097), autosomal recessive non-syndromic intellectual disability (MONDO:0019502)

Orphanet (5): Early infantile developmental and epileptic encephalopathy (Orphanet:1934), West syndrome (Orphanet:3451), Autosomal recessive non-syndromic intellectual disability (Orphanet:88616), Early myoclonic encephalopathy (Orphanet:1935), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

18 total (18 of 18 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000737	Irritability
HP:0000817	Reduced eye contact
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0002069	Bilateral tonic-clonic seizure
HP:0002187	Profound intellectual disability
HP:0002266	Focal clonic seizure
HP:0002476	Primitive reflex
HP:0002521	Hypsarrhythmia
HP:0002540	Inability to walk
HP:0003593	Infantile onset
HP:0010819	Atonic seizure
HP:0011097	Epileptic spasm
HP:0011344	Severe global developmental delay
HP:0032792	Tonic seizure
HP:0032794	Myoclonic seizure
HP:0200134	Epileptic encephalopathy

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST001166_8	Aging (time to event)	9.000000e-06
GCST001663_9	Amyotrophic lateral sclerosis (age of onset)	7.000000e-08
GCST004521_235	Autism spectrum disorder or schizophrenia	4.000000e-10
GCST004946_9	Schizophrenia	1.000000e-12
GCST005141_40	Cognitive ability (MTAG)	2.000000e-09
GCST005142_63	Cognitive ability	8.000000e-06
GCST005173_10	Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes	1.000000e-06
GCST005316_277	Intelligence (MTAG)	5.000000e-08
GCST005316_471	Intelligence (MTAG)	1.000000e-13
GCST005316_474	Intelligence (MTAG)	2.000000e-09
GCST005316_475	Intelligence (MTAG)	1.000000e-11
GCST005362_5	Attention deficit hyperactivity disorder	2.000000e-07
GCST006269_1169	General cognitive ability	3.000000e-08
GCST006269_679	General cognitive ability	8.000000e-10
GCST006269_808	General cognitive ability	8.000000e-09
GCST008876_8	Non-lobar intracerebral hemorrhage (MTAG)	7.000000e-06
GCST009523_1	Household income	5.000000e-10
GCST009524_167	Household income (MTAG)	9.000000e-12
GCST009524_259	Household income (MTAG)	3.000000e-11
GCST009524_31	Household income (MTAG)	1.000000e-10
GCST009524_337	Household income (MTAG)	3.000000e-13
GCST010002_357	Refractive error	3.000000e-13
GCST90000047_2	Age at first sexual intercourse	7.000000e-12
GCST90000050_2	Age at first birth	3.000000e-10
GCST90002394_136	Monocyte percentage of white cells	7.000000e-10
GCST90011900_39	Serum alkaline phosphatase levels	3.000000e-13
GCST90013421_22	Left-handedness	1.000000e-10

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0022597	aging
EFO:0004847	age at onset
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0004723	coronary artery calcification
EFO:0010178	non-lobar intracerebral hemorrhage
EFO:0009695	household income
EFO:0009749	age at first sexual intercourse measurement
EFO:0009101	age at first birth measurement
EFO:0007989	monocyte percentage of leukocytes
EFO:0004533	alkaline phosphatase measurement
EFO:0009902	handedness

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C567019	Mental Retardation, Autosomal Recessive 12 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3596076 (SINGLE PROTEIN)

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

ChEMBL bioactivities

3 potent at pChembl≥5 of 4 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.06	IC50	880	nM	CHEMBL5641631
5.57	IC50	2700	nM	CHEMBL338988
5.00	IC50	1e+04	nM	CHEMBL1170899

PubChem BioAssay actives

1 with measured affinity, of 1 total; 1 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
(4R)-4-[(3R,5R,8R,9S,10S,13R,14S,17R)-3-[(2S)-3-carboxy-2-[(4-nitro-2,1,3-benzoxadiazol-7-yl)amino]propanoyl]oxy-10,13-dimethyl-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-17-yl]pentanoic acid	2144161: Inhibition of ST3GAL3 (unknown origin)	ic50	0.8800	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation	4
Benzo(a)pyrene	decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
propionaldehyde	decreases expression	1
hydroxyhydroquinone	decreases expression	1
arsenite	affects binding, increases reaction	1
butyraldehyde	decreases expression	1
hydroquinone	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases expression	1
Arsenic	affects methylation	1
Cisplatin	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	increases expression	1
Hydrogen Peroxide	affects cotreatment, decreases expression	1
Lithocholic Acid	decreases activity	1
Nickel	decreases expression	1
Ozone	increases abundance, affects cotreatment, increases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3598448	Binding	Inhibition of ST3N (unknown origin)	Beyond substrate analogues: new inhibitor chemotypes for glycosyltransferases — Medchemcomm

Cellosaurus cell lines

2 cell lines: 2 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_D0NA	UKWMPi002-A-3	Induced pluripotent stem cell	Female
CVCL_D6RR	DeltaST3GAL3 clone 1	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01413711	PHASE4	WITHDRAWN	An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms
NCT02092883	PHASE4	COMPLETED	Evaluation of Neuroinflammation in Children With Infantile Spasms
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
NCT01575639	PHASE3	COMPLETED	Prednisolone in Infantile Spasms- High Dose Versus Usual Dose
NCT01828437	PHASE3	COMPLETED	Addition of Pyridoxine to Prednisolone in Infantile Spasms
NCT02299115	PHASE3	WITHDRAWN	Prednisolone Versus Vigabatrin in the First-line Treatment of Infantile Spasms
NCT02953548	PHASE3	COMPLETED	Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7)
NCT02954887	PHASE3	COMPLETED	Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7)
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)
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
NCT00441896	PHASE2	COMPLETED	A Randomized, Controlled Trial of Ganaxolone in Patients With Infantile Spasms
NCT00442104	PHASE2	TERMINATED	Open-label Extension to Protocol 1042-0500
NCT02829827	PHASE2	TERMINATED	A Phase 2 Study of Radiprodil in Subjects With Drug-resistant Infantile Spasms (IS)
NCT03976076	PHASE2	TERMINATED	A Study of Orally Administered JBPOS0101 in Refractory Infantile Spasms Patients
NCT06819670	PHASE2	RECRUITING	A Study to Prevent Infantile Spasms Relapse
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
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT04727970	PHASE1	COMPLETED	Tricaprilin Infantile Spasms Pilot Study
NCT06700811	PHASE1	RECRUITING	Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
NCT01006811	PHASE2/PHASE3	COMPLETED	Use of the Modified Atkins Diet in Infantile Spasms
NCT01549288	PHASE2/PHASE3	WITHDRAWN	Trial of the Modified Atkins Diet in Infantile Spasms Refractory to Hormonal Therapy
NCT05279118	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Ketogenic Diet vs ACTH for the Treatment of Children With West Syndrome
NCT06201897	PHASE2/PHASE3	RECRUITING	Cortical Excitability in West Syndrome Using Transcranial Magnetic Stimulation