KCNC1

Summary

KCNC1 (potassium voltage-gated channel subfamily C member 1, HGNC:6233) is a protein-coding gene on chromosome 11p15.1, encoding Voltage-gated potassium channel KCNC1 (P48547). Voltage-gated potassium channel that opens in response to the voltage difference across the membrane and through which potassium ions pass in accordance with their electrochemical gradient.

This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both “b” and “alpha”, while the shorter isoform has been called both “a” and “beta” (PMIDs 1432046, 12091563).

Source: NCBI Gene 3746 — RefSeq curated summary.

At a glance

• Gene–disease (curated): progressive myoclonus epilepsy (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 538 total — 1 pathogenic, 11 likely-pathogenic
• Phenotypes (HPO): 12
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001112741

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6233
Approved symbol	KCNC1
Name	potassium voltage-gated channel subfamily C member 1
Location	11p15.1
Locus type	gene with protein product
Status	Approved
Aliases	Kv3.1
Ensembl gene	ENSG00000129159
Ensembl biotype	protein_coding
OMIM	176258
Entrez	3746

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 8 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000265969, ENST00000379472, ENST00000525802, ENST00000526029, ENST00000638366, ENST00000638395, ENST00000638825, ENST00000639325, ENST00000639495, ENST00000640153, ENST00000640318, ENST00000640461, ENST00000640909, ENST00000675775

RefSeq mRNA: 2 — MANE Select: NM_001112741 NM_001112741, NM_004976

CCDS: CCDS44547, CCDS7827

Canonical transcript exons

ENST00000265969 — 4 exons

Exon	Start	End
ENSE00000886531	17771665	17772598
ENSE00001734680	17779456	17779644
ENSE00002152794	17781670	17783057
ENSE00002186975	17734781	17736572

Expression profiles

Bgee: expression breadth ubiquitous, 186 present calls, max score 98.51.

FANTOM5 (CAGE): breadth broad, TPM avg 4.5028 / max 780.1675, expressed in 267 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
113290	4.3772	262
113289	0.0432	33
206203	0.0421	28
206202	0.0327	21
113292	0.0077	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	98.51	gold quality
cerebellar hemisphere	UBERON:0002245	98.47	gold quality
cerebellar cortex	UBERON:0002129	98.43	gold quality
cerebellum	UBERON:0002037	97.79	gold quality
primary visual cortex	UBERON:0002436	93.78	gold quality
cerebellar vermis	UBERON:0004720	92.78	gold quality
right frontal lobe	UBERON:0002810	92.16	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.80	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.23	gold quality
prefrontal cortex	UBERON:0000451	90.98	gold quality
occipital lobe	UBERON:0002021	90.18	gold quality
frontal cortex	UBERON:0001870	89.53	gold quality
neocortex	UBERON:0001950	89.22	gold quality
Brodmann (1909) area 23	UBERON:0013554	88.79	gold quality
cingulate cortex	UBERON:0003027	88.61	gold quality
anterior cingulate cortex	UBERON:0009835	88.47	gold quality
postcentral gyrus	UBERON:0002581	88.06	gold quality
cerebral cortex	UBERON:0000956	88.03	gold quality
middle temporal gyrus	UBERON:0002771	87.75	gold quality
parietal lobe	UBERON:0001872	87.17	gold quality
lateral nuclear group of thalamus	UBERON:0002736	87.10	gold quality
superior frontal gyrus	UBERON:0002661	86.73	gold quality
entorhinal cortex	UBERON:0002728	86.38	gold quality
type B pancreatic cell	CL:0000169	86.12	gold quality
olfactory bulb	UBERON:0002264	85.67	gold quality
telencephalon	UBERON:0001893	85.50	gold quality
brain	UBERON:0000955	84.64	gold quality
cortical plate	UBERON:0005343	84.36	gold quality
central nervous system	UBERON:0001017	84.24	gold quality
hypothalamus	UBERON:0001898	83.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-137537	yes	9.87
E-ANND-3	yes	4.50

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB1, NFATC3

miRNA regulators (miRDB)

203 targeting KCNC1, 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-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-153-5P	99.89	73.86	6317

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 25)

• Describes localization in mouse brain of two isoforms - the longer is called b and the shorter is called a. (PMID:12091563)
• Describes two rat isoforms of Kv3.1, alpha is the longer one and beta is the shorter one (PMID:1432046)
• In the absence of potassium ion, significant N-methyl-D-glucamine (NMDG)-positive currents could be recorded from human embryonic kidney cells expressing Kv3.1 or Kv3.2b channels and Kv1.5 Arg487Tyr/Val, but not wild-type channels. (PMID:19332619)
• Kv3.1 channels are transported into axons by binding to kinesin I. (PMID:21106837)
• Although all KV3 subunit transcripts are significantly expressed at embryonic age in whole mouse brain extracts, only KV3.1, KV3.2 and KV3.4 subunit transgenic proteins are present. (PMID:21912965)
• demonstrated that glycosylation was necessary for both DPP10 trafficking to the cell surface and functional interaction with Kv4 channels (PMID:22387313)
• KChIP4a suppresses A-type Kv4 current via ER retention and enhancement of Kv4 closed-state inactivation. (PMID:23576435)
• Findings show a decrease in Kv3.1b channel protein in schizophrenia neocortex, a deficit that is restored by antipsychotic drugs (PMID:23628987)
• A recurrent KCNC1 de novo mutation, c.959G>A (p.Arg320His), is a new major cause for progressive myoclonus epilepsy. It has a dominant-negative loss-of-function effect. (PMID:25401298)
• KCNC1 produces a resurgent current during repolarization, ensuring enough repolarizing power to terminate each action potential. The current results from a combination of steep voltage-dependent gating kinetics and ultra-fast voltage-sensor relaxation. (PMID:26673941)
• reviews the phenotype/genotype of progressive myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK)associated with KCNC1 mutations [review] (PMID:27629860)
• A nonsense variant in KCNC1 gene was identified in three family members with intellectual disability without seizures. (PMID:28145425)
• KNCN1 p.R320H mutation causes MEAK syndrome. (PMID:28380698)
• A recurrent de novo mutation in KCNC1 (c.959G>A, p.Arg320His) has been identified recently as one of the important genetic causes of progress myoclonic epilepsy. This recurrent mutation in KCNC1 was identified in the two brothers who showed characteristic features of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK). The asymptomatic mother was suspected as being mosaic for this mutation. (PMID:29428275)
• polybasic motif in alternatively spliced KChIP2 isoforms prevents Ca(2+) regulation of Kv4 channels (PMID:30622142)
• Authors identified three new de novo missense variants in KCNC1 in five unrelated individuals causing different phenotypes featuring either isolated nonprogressive myoclonus (p.Cys208Tyr), intellectual disability (p.Thr399Met), or epilepsy with myoclonic, absence and generalized tonic-clonic seizures, ataxia, and developmental delay (p.Ala421Val, three patients). (PMID:31353862)
• Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder. (PMID:31732108)
• First Evidence of Kv3.1b Potassium Channel Subtype Expression during Neuronal Serotonergic 1C11 Cell Line Development. (PMID:33003279)
• Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing. (PMID:33349918)
• Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy. (PMID:33735526)
• Methylation gene KCNC1 is associated with overall survival in patients with seminoma. (PMID:34105734)
• A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation. (PMID:34232791)
• Cross Pharmacological, Biochemical and Computational Studies of a Human Kv3.1b Inhibitor from Androctonus australis Venom. (PMID:34830172)
• Cryo-EM structure of the human Kv3.1 channel reveals gating control by the cytoplasmic T1 domain. (PMID:35840580)
• A KCNC1-related neurological disorder due to gain of Kv3.1 function. (PMID:36419348)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	kcnc1b	ENSDARG00000032959
danio_rerio	kcnc1a	ENSDARG00000051852
mus_musculus	Kcnc1	ENSMUSG00000058975
rattus_norvegicus	Kcnc1	ENSRNOG00000055401

Paralogs (31): KCNG1 (ENSG00000026559), KCNQ1 (ENSG00000053918), KCNQ2 (ENSG00000075043), KCND1 (ENSG00000102057), KCNA7 (ENSG00000104848), KCNA1 (ENSG00000111262), KCNC4 (ENSG00000116396), KCNQ4 (ENSG00000117013), KCNS1 (ENSG00000124134), KCNA5 (ENSG00000130037), KCNC3 (ENSG00000131398), KCNA10 (ENSG00000143105), KCNA6 (ENSG00000151079), KCNS2 (ENSG00000156486), KCNB1 (ENSG00000158445), KCNF1 (ENSG00000162975), KCNV1 (ENSG00000164794), KCNC2 (ENSG00000166006), KCNV2 (ENSG00000168263), KCNG4 (ENSG00000168418), KCNS3 (ENSG00000170745), KCNG3 (ENSG00000171126), KCND3 (ENSG00000171385), KCNA3 (ENSG00000177272), KCNA2 (ENSG00000177301), KCNG2 (ENSG00000178342), KCNA4 (ENSG00000182255), KCNB2 (ENSG00000182674), KCNQ3 (ENSG00000184156), KCND2 (ENSG00000184408), KCNQ5 (ENSG00000185760)

Protein

Protein identifiers

Voltage-gated potassium channel KCNC1 — P48547 (reviewed: P48547)

Alternative names: NGK2, Potassium voltage-gated channel subfamily C member 1, Voltage-gated potassium channel subunit Kv3.1, Voltage-gated potassium channel subunit Kv4

All UniProt accessions (8): P48547, A0A1W2PNN0, A0A1W2PNZ3, A0A1W2PP60, A0A1W2PPN9, A0A1W2PPT0, A0A1W2PPX0, A0A6Q8PHL6

UniProt curated annotations — full annotation on UniProt →

Function. Voltage-gated potassium channel that opens in response to the voltage difference across the membrane and through which potassium ions pass in accordance with their electrochemical gradient. The mechanism is time-dependent and inactivation is slow. Plays an important role in the rapid repolarization of fast-firing brain neurons. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons.

Subunit / interactions. Homotetramer. Homomultimer. Heteromultimer with KCNG3, KCNG4 and KCNV2. Heteromultimer with KCNC2. Heterotetramer with KCNC3. Interacts with the ancillary subunits KCNE1 and KCNE2; the interaction modulates channel activity.

Subcellular location. Cell membrane. Cell projection. Axon. Presynaptic cell membrane.

Post-translational modifications. N-glycosylated; contains sialylated glycans.

Disease relevance. Epilepsy, progressive myoclonic 7 (EPM7) [MIM:616187] A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM7 is an autosomal dominant form characterized by myoclonic epilepsy apparent in the first or second decades of life. Cognitive function may decline in some patients. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. The N-terminal cytoplasmic T1 domain is involved but not required for Zn(2+)-mediated tetramerization.

Similarity. Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.1/KCNC1 sub-subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
P48547-1	1	yes
P48547-2	2

RefSeq proteins (2): NP_001106212, NP_004967 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR003131	T1-type_BTB	Domain
IPR003968	K_chnl_volt-dep_Kv	Family
IPR003974	K_chnl_volt-dep_Kv3	Family
IPR005403	K_chnl_volt-dep_Kv3.1	Family
IPR005821	Ion_trans_dom	Domain
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR027359	Volt_channel_dom_sf	Homologous_superfamily
IPR028325	VG_K_chnl	Family

Pfam: PF00520, PF02214

Catalyzed reactions (Rhea), 1 shown:

• K(+)(in) = K(+)(out) (RHEA:29463)

UniProt features (77 total): helix 21, strand 15, binding site 8, modified residue 7, turn 7, transmembrane region 6, topological domain 4, glycosylation site 2, chain 1, region of interest 1, short sequence motif 1, compositionally biased region 1, splice variant 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
8QUD	ELECTRON MICROSCOPY	2.5
7PQT	ELECTRON MICROSCOPY	2.65
8QUC	ELECTRON MICROSCOPY	2.9
8F1C	ELECTRON MICROSCOPY	2.92
8F1D	ELECTRON MICROSCOPY	2.94
7PQU	ELECTRON MICROSCOPY	3.03
7PHI	ELECTRON MICROSCOPY	3.1
7PHK	ELECTRON MICROSCOPY	3.1
7PHH	ELECTRON MICROSCOPY	3.2
7PHL	ELECTRON MICROSCOPY	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P48547-F1	79.51	0.46

Functional residue map

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

Ligand- & substrate-binding residues (8): 77; 83; 104; 105; 400; 401; 402; 403

Post-translational modifications (7): 44, 130, 142, 158, 160, 474, 483

Glycosylation sites (2): 220, 229

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1296072	Voltage gated Potassium channels
R-HSA-112316	Neuronal System
R-HSA-1296071	Potassium Channels

MSigDB gene sets: 218 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_POTASSIUM_ION_TRANSPORT, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_METENCEPHALON_DEVELOPMENT, REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS, GOBP_RESPONSE_TO_AMINE, REACTOME_POTASSIUM_CHANNELS, MAZ_Q6, GOCC_CELL_SURFACE, GOBP_RESPONSE_TO_POTASSIUM_ION, TGACCTY_ERR1_Q2, GOBP_POSITIVE_REGULATION_OF_POTASSIUM_ION_TRANSPORT, GOBP_CRANIAL_NERVE_DEVELOPMENT

GO Biological Process (25): action potential (GO:0001508), potassium ion transport (GO:0006813), response to toxic substance (GO:0009636), response to light intensity (GO:0009642), response to auditory stimulus (GO:0010996), response to amine (GO:0014075), cerebellum development (GO:0021549), optic nerve development (GO:0021554), globus pallidus development (GO:0021759), corpus callosum development (GO:0022038), response to potassium ion (GO:0035864), protein homooligomerization (GO:0051260), protein tetramerization (GO:0051262), cellular response to xenobiotic stimulus (GO:0071466), response to fibroblast growth factor (GO:0071774), potassium ion transmembrane transport (GO:0071805), positive regulation of potassium ion transmembrane transport (GO:1901381), response to nerve growth factor (GO:1990089), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), regulation of monoatomic ion transmembrane transport (GO:0034765), positive regulation of monoatomic ion transmembrane transport (GO:0034767), transmembrane transport (GO:0055085), regulation of presynaptic membrane potential (GO:0099505), regulation of potassium ion transmembrane transport (GO:1901379)

GO Molecular Function (9): voltage-gated potassium channel activity (GO:0005249), delayed rectifier potassium channel activity (GO:0005251), kinesin binding (GO:0019894), transmembrane transporter binding (GO:0044325), voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential (GO:0099508), monoatomic ion channel activity (GO:0005216), potassium channel activity (GO:0005267), protein binding (GO:0005515), gated channel activity (GO:0022836)

GO Cellular Component (18): plasma membrane (GO:0005886), voltage-gated potassium channel complex (GO:0008076), cell surface (GO:0009986), axolemma (GO:0030673), dendrite membrane (GO:0032590), neuronal cell body membrane (GO:0032809), presynaptic membrane (GO:0042734), axon terminus (GO:0043679), calyx of Held (GO:0044305), postsynaptic membrane (GO:0045211), membrane (GO:0016020), axon (GO:0030424), dendrite (GO:0030425), neuron projection membrane (GO:0032589), monoatomic ion channel complex (GO:0034702), cell projection (GO:0042995), neuronal cell body (GO:0043025), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Potassium Channels	1
Neuronal System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
neuron projection	3
anatomical structure development	2
protein complex oligomerization	2
response to growth factor	2
channel activity	2
neuron projection membrane	2
synaptic membrane	2
presynapse	2
regulation of membrane potential	1
metal ion transport	1
response to chemical	1
response to light stimulus	1
response to mechanical stimulus	1
response to nitrogen compound	1
metencephalon development	1
cranial nerve development	1
diencephalon development	1
neural nucleus development	1
telencephalon development	1
response to metal ion	1
response to xenobiotic stimulus	1
cellular response to chemical stimulus	1
potassium ion transport	1
monoatomic cation transmembrane transport	1
positive regulation of potassium ion transport	1
potassium ion transmembrane transport	1
regulation of potassium ion transmembrane transport	1
positive regulation of cation transmembrane transport	1
transport	1
monoatomic ion transport	1
transmembrane transport	1
potassium channel activity	1
voltage-gated monoatomic cation channel activity	1
voltage-gated potassium channel activity	1
cytoskeletal protein binding	1
protein binding	1
voltage-gated monoatomic ion channel activity	1
presynaptic membrane	1
regulation of presynaptic membrane potential	1

Protein interactions and networks

STRING

2967 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KCNC1	KCNIP1	Q9NZI2	995
KCNC1	KCNIP3	Q9Y2W7	987
KCNC1	KCNIP2	Q9NS61	984
KCNC1	KCNIP4	Q6PIL6	925
KCNC1	CAV3	P56539	907
KCNC1	DPP6	P42658	876
KCNC1	NCS1	P36610	860
KCNC1	DPP10	Q8N608	810
KCNC1	KCNAB1	Q14722	777
KCNC1	LDHC	P07864	769
KCNC1	RCVRN	P35243	756
KCNC1	KCNAB2	Q13303	742
KCNC1	HPCA	P32076	706
KCNC1	KCNH2	Q12809	664
KCNC1	UHMK1	Q8TAS1	659

IntAct

13 interactions, top by confidence:

A	B	Type	Score
KCNC1	LPAR3	psi-mi:“MI:0915”(physical association)	0.560
KCNC1	TMBIM6	psi-mi:“MI:0915”(physical association)	0.560
TUSC5	KCNC1	psi-mi:“MI:0915”(physical association)	0.560
KCNC4	GXYLT2	psi-mi:“MI:0914”(association)	0.350
KCNC4	SMPD2	psi-mi:“MI:0914”(association)	0.350
KCNC3	ATF6	psi-mi:“MI:0914”(association)	0.350
LPAR3	KCNC1	psi-mi:“MI:0915”(physical association)	0.000
TUSC5	KCNC1	psi-mi:“MI:0915”(physical association)	0.000
TMBIM6	KCNC1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (20): KCNC1 (Affinity Capture-MS), KCNC1 (Affinity Capture-Western), KCNC1 (Affinity Capture-Western), TMBIM6 (Two-hybrid), LPAR3 (Two-hybrid), TUSC5 (Two-hybrid), KCNG3 (Two-hybrid), KCNH1 (Two-hybrid), KCNV2 (Two-hybrid), KCNC1 (Affinity Capture-MS), KCNC1 (Affinity Capture-MS), KCNC1 (Positive Genetic), KCNC1 (Co-fractionation), KCNC1 (Co-fractionation), NPTX1 (Co-fractionation)

ESM2 similar proteins: A2BDX4, A4K2T1, A4K2Y2, D4AD53, O15554, O73606, O88454, O89109, P15388, P17971, P17972, P35739, P48547, P59053, P59994, P59995, P97557, Q03719, Q0P583, Q17ST2, Q52PG9, Q5RC10, Q60565, Q63881, Q6IVV8, Q6PIU1, Q7TN37, Q80XM3, Q8BZN2, Q8CFS6, Q8HYZ1, Q8IV77, Q8R1P5, Q8R523, Q8TAE7, Q8TD43, Q8TDN1, Q8TDN2, Q96RP8, Q9ERS0

Diamond homologs: A2BDX4, A4K2M4, A4K2N8, A4K2P6, A4K2Q6, A4K2R3, A4K2S2, A4K2T1, A4K2V2, A4K2W6, A4K2X4, A4K2Y2, A6H8H5, D4AD53, D4ADX7, G5EFC3, O18868, O35173, O35174, O73606, O88758, O88759, P10499, P15384, P15385, P15387, P15388, P16388, P16390, P17970, P17971, P17972, P22001, P22459, P22739, P25122, P48547, P59053, P59994, P59995

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
KCNC1	“down-regulates quantity”	potassium(1+)	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	11
Uncertain significance	267
Likely benign	216
Benign	14

Top pathogenic / likely-pathogenic (12)

Variant ID	HGVS	Classification
2856264	NM_001112741.2(KCNC1):c.1199C>A (p.Thr400Asn)	Pathogenic
1298508	NM_001112741.2(KCNC1):c.22G>T (p.Glu8Ter)	Likely pathogenic
1320194	NM_001112741.2(KCNC1):c.490C>T (p.Arg164Trp)	Likely pathogenic
2575090	NM_001112741.2(KCNC1):c.1023C>G (p.Ser341Arg)	Likely pathogenic
3365213	NM_001112741.2(KCNC1):c.1290G>A (p.Met430Ile)	Likely pathogenic
3773830	NM_001112741.2(KCNC1):c.430G>A (p.Asp144Asn)	Likely pathogenic
568146	NM_001112741.2(KCNC1):c.691A>G (p.Thr231Ala)	Likely pathogenic
658535	NM_001112741.2(KCNC1):c.108del (p.Trp36fs)	Likely pathogenic
692088	NM_001112741.2(KCNC1):c.1370del (p.Lys457fs)	Likely pathogenic
813805	NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)	Likely pathogenic
938939	NM_001112741.2(KCNC1):c.1538C>T (p.Ala513Val)	Likely pathogenic
987044	NM_001112741.2(KCNC1):c.623G>A (p.Cys208Tyr)	Likely pathogenic

SpliceAI

1409 predictions. Top by Δscore:

Variant	Effect	Δscore
11:17736569:GCGG:G	donor_gain	1.0000
11:17771659:CCACA:C	acceptor_loss	1.0000
11:17771660:CACA:C	acceptor_loss	1.0000
11:17771661:ACAG:A	acceptor_loss	1.0000
11:17771662:CA:C	acceptor_loss	1.0000
11:17771663:A:AG	acceptor_gain	1.0000
11:17771663:AGTAT:A	acceptor_gain	1.0000
11:17771664:G:GT	acceptor_gain	1.0000
11:17771664:GT:G	acceptor_gain	1.0000
11:17771664:GTA:G	acceptor_gain	1.0000
11:17771664:GTAT:G	acceptor_gain	1.0000
11:17771664:GTATG:G	acceptor_gain	1.0000
11:17736568:CGCGG:C	donor_gain	0.9900
11:17736569:GCGGG:G	donor_gain	0.9900
11:17736570:CGG:C	donor_gain	0.9900
11:17736571:GG:G	donor_gain	0.9900
11:17736571:GGG:G	donor_gain	0.9900
11:17736571:GGGTA:G	donor_loss	0.9900
11:17736572:GG:G	donor_gain	0.9900
11:17736572:GGT:G	donor_loss	0.9900
11:17736573:G:C	donor_loss	0.9900
11:17736573:G:GG	donor_gain	0.9900
11:17736574:T:A	donor_loss	0.9900
11:17811634:T:TA	donor_gain	0.9800
11:17771661:A:AG	acceptor_gain	0.9700
11:17788413:CCT:C	acceptor_loss	0.9700
11:17788415:T:C	acceptor_loss	0.9700
11:17779447:T:G	acceptor_gain	0.9600
11:17788410:CCAC:C	acceptor_gain	0.9600
11:17788411:CACC:C	acceptor_gain	0.9600

AlphaMissense

3839 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:17736037:T:A	I12N	1.000
11:17736045:G:C	G15R	1.000
11:17736046:G:A	G15D	1.000
11:17736046:G:T	G15V	1.000
11:17736079:T:A	L26Q	1.000
11:17736079:T:C	L26P	1.000
11:17736103:T:A	L34H	1.000
11:17736177:C:A	R59S	1.000
11:17736178:G:C	R59P	1.000
11:17736192:T:C	F64L	1.000
11:17736194:C:A	F64L	1.000
11:17736194:C:G	F64L	1.000
11:17736205:T:C	L68P	1.000
11:17736209:C:A	N69K	1.000
11:17736209:C:G	N69K	1.000
11:17736210:T:G	Y70D	1.000
11:17736213:T:G	Y71D	1.000
11:17736216:C:A	R72S	1.000
11:17736217:G:C	R72P	1.000
11:17736229:T:A	L76Q	1.000
11:17736229:T:C	L76P	1.000
11:17736231:C:A	H77N	1.000
11:17736231:C:G	H77D	1.000
11:17736233:C:A	H77Q	1.000
11:17736233:C:G	H77Q	1.000
11:17736249:T:A	C83S	1.000
11:17736249:T:C	C83R	1.000
11:17736250:G:A	C83Y	1.000
11:17736250:G:C	C83S	1.000
11:17736250:G:T	C83F	1.000

dbSNP variants (sampled 300 via entrez): RS1000009327 (11:17750358 CTCAGGGCCAGG>C), RS1000056233 (11:17757822 A>G,T), RS1000300795 (11:17764625 T>C), RS1000307651 (11:17746286 G>A), RS1000360314 (11:17746594 G>A,T), RS1000428854 (11:17780575 C>T), RS1000519762 (11:17735225 C>G), RS1000530832 (11:17735530 G>A,C), RS1000554365 (11:17751121 C>T), RS1000564157 (11:17745771 T>C), RS1000592361 (11:17775729 C>T), RS1000668310 (11:17779775 A>C,G), RS1000820919 (11:17734459 G>GTTTT), RS1000874753 (11:17756353 C>T), RS1000943252 (11:17775116 G>A,T)

Disease associations

OMIM: gene MIM:176258 | disease phenotypes: MIM:616187, MIM:254800

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	Autosomal dominant
progressive myoclonic epilepsy type 7	Definitive	Autosomal dominant
progressive myoclonus epilepsy	Definitive	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
progressive myoclonus epilepsy	Definitive	AD
complex neurodevelopmental disorder	Definitive	AD

Mondo (4): progressive myoclonic epilepsy type 7 (MONDO:0014521), progressive myoclonus epilepsy (MONDO:0020074), intellectual disability (MONDO:0001071), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (4): Progressive myoclonic epilepsy type 7 (Orphanet:435438), Progressive myoclonic epilepsy type 1 (Orphanet:308), Progressive myoclonic epilepsy (Orphanet:98261), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

12 total (12 of 12 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001251	Ataxia
HP:0001268	Mental deterioration
HP:0001272	Cerebellar atrophy
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0002069	Bilateral tonic-clonic seizure
HP:0003621	Juvenile onset
HP:0003676	Progressive
HP:0011198	EEG with generalized epileptiform discharges
HP:0011463	Childhood onset
HP:0032794	Myoclonic seizure

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002235_2	Opioid sensitivity	5.000000e-07
GCST003542_112	Night sleep phenotypes	2.000000e-06
GCST005951_67	Body mass index	6.000000e-09
GCST005951_68	Body mass index	3.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

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
D020191	Myoclonic Epilepsies, Progressive	C10.228.140.490.375.130.650; C10.228.140.490.493.063.650

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2362996 (PROTEIN FAMILY), CHEMBL5529 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: vgic — Voltage-gated potassium channels (K_v)

Most potent curated ligand interactions (10 total), top 10:

Ligand	Action	Affinity	Parameter
fluoxetine	Gating inhibitor	6.1	pIC50
norfluoxetine	Gating inhibitor	4.9	pIC50
fampridine	Channel blocker	4.5	pIC50
resiniferatoxin	Channel blocker	4.3	pIC50
diltiazem	Channel blocker	4.0	pIC50
flecainide	Channel blocker	4.0	pIC50
nifedipine	Channel blocker	3.9	pIC50
capsaicin	Channel blocker	3.8	pIC50
tetraethylammonium	Channel blocker	3.7	pIC50
cromakalim	Channel blocker	3.6	pIC50

Binding affinities (BindingDB)

25 measured of 28 human assays (28 total across all organisms); most potent 25 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
US12358901, Example RE11	EC50	794 nM	US-12358901: KV3 modulators
US12358901, Example RE13	EC50	794 nM	US-12358901: KV3 modulators
US12358901, Example 9	EC50	1260 nM	US-12358901: KV3 modulators
(5R)-5-ethyl-5- methyl-3-[5-(7- methylspiro[2H- benzofuran-3,1’- cyclopropane]- 4-yl)oxypyrazin- 2- yl]imidazolidine- 2,4-dione	EC50	2040 nM	US-12358901: KV3 modulators
(5R)-5-ethyl-3-(5- spiro[2H- benzofuran-3,1’- cyclopropane]-4- yloxypyrazin-2- yl) imidazolidine- 2,4-dione	EC50	2340 nM	US-12358901: KV3 modulators
US12358901, Example RE12	EC50	2510 nM	US-12358901: KV3 modulators
US12358901, Example RE6	EC50	2630 nM	US-12358901: KV3 modulators
US12358901, Example RE7	EC50	2750 nM	US-12358901: KV3 modulators
(5R)-5-ethyl-3-[5- [(3,3,7-trimethyl- 2H-benzofuran-4- yl)oxy]pyrazin-2- yl]imidazolidine- 2,4-dione	EC50	2750 nM	US-12358901: KV3 modulators
6-[5-(7- methylspiro[2H- benzofuran-3,1’- cyclopropane]-4- yl)oxypyrazin-2- yl]-4,6- diazaspiro[2.4] heptane-5,7-dione	EC50	3090 nM	US-12358901: KV3 modulators
US12358901, Example 1	EC50	3390 nM	US-12358901: KV3 modulators
(5R)-5-ethyl-5- methyl-3-[5- [(3,3,7-trimethyl- 2H-benzofuran- 4-yl)oxy]pyrazin- 2- yl]imidazolidine- 2,4-dione	EC50	5130 nM	US-12358901: KV3 modulators
US12358901, Example RE2	EC50	5620 nM	US-12358901: KV3 modulators
US12358901, Example RE14	EC50	6310 nM	US-12358901: KV3 modulators
5,5-dimethyl-3- (5-spiro[2H- benzofuran-3,1’- cyclopropane]- 4-yloxypyrazin- 2- yl)imidazolidine- 2,4-dione	EC50	6760 nM	US-12358901: KV3 modulators
(5R)-5-ethyl-5- methyl-3-(5- spiro[2H- benzofuran-3,1’- cyclopropane]-4- yloxypyrazin-2- yl)imidazolidine- 2,4-dione	EC50	7080 nM	US-12358901: KV3 modulators
US12358901, Example RE5	EC50	7240 nM	US-12358901: KV3 modulators
5,5-dimethyl-3- [5-[(3,3,7- trimethyl-2H- benzofuran-4- yl)oxy]pyrazin-2- yl]imidazolidine- 2,4-dione	EC50	7590 nM	US-12358901: KV3 modulators
7-[5-(7- methylspiro[2H- benzofuran-3,1’- cyclopropane]-4- yl)oxypyrazin-2- yl]-5,7- diazaspiro[3.4] octane-6,8-dione	EC50	8130 nM	US-12358901: KV3 modulators
US12358901, Example RE8	EC50	10500 nM	US-12358901: KV3 modulators
US12358901, Example RE3	EC50	12900 nM	US-12358901: KV3 modulators
(5R)-3-[5-[(3,3- dimethyl-2H- benzofuran-4- yl)oxy]pyrazin-2- yl]-5-ethyl- imidazolidine-2,4- dione	EC50	12900 nM	US-12358901: KV3 modulators
US12358901, Example RE1	EC50	16600 nM	US-12358901: KV3 modulators
(5R)-3-[5-[(3,3- dimethyl-2H- benzofuran-4- yl)oxy]pyrazin-2- yl]-5-ethyl-5- methyl- imidazolidine- 2,4-dione	EC50	17800 nM	US-12358901: KV3 modulators
3-[5-[(3,3- dimethyl-2H- benzofuran-4- yl)oxy]pyrazin-2- yl]-5,5-dimethyl- imidazolidine-2,4- dione	EC50	20900 nM	US-12358901: KV3 modulators

ChEMBL bioactivities

2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.82	Ki	0.15	nM	CHEMBL5722941
9.74	IC50	0.18	nM	CHEMBL5722941

PubChem BioAssay actives

2 with measured affinity, of 50 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
3-[(1R,2aS,4S,5aS,8aS,10S,11aR,14aS,16S,17aS,19S,20aS,22S,23aS,25S,26aS,28S,29aS,31R,32aS,35aS,36R,38aS,39S,41aS,42S,44aS,45S,48R,50aS,51S,53aS,54S,56aS,57S,59aS,60S,63S,66S,69S,72S,75S,78S,87R,93S,96S,99S)-17a,20a,23a,53a,63-pentakis(4-aminobutyl)-31-[[(2S)-2-[[(2S)-6-amino-2-[[(2S)-5-carbamimidamido-2-[[(2S)-5-carbamimidamido-2-[[(2S)-1-[(2S)-5-oxopyrrolidine-2-carbonyl]pyrrolidine-2-carbonyl]amino]pentanoyl]amino]pentanoyl]amino]hexanoyl]amino]-4-methylpentanoyl]amino]-16,29a,72,78-tetrakis(2-amino-2-oxoethyl)-14a,26a-bis(3-amino-3-oxopropyl)-2a,38a,66-tribenzyl-28,50a,57-tris[(2S)-butan-2-yl]-4,5a,19,42,45,69-hexakis(3-carbamimidamidopropyl)-51,54-bis(2-carboxyethyl)-56a,99-bis(carboxymethyl)-36-[[(2S,3S)-1-(carboxymethylamino)-3-methyl-1-oxopentan-2-yl]carbamoyl]-39,60-bis[(1R)-1-hydroxyethyl]-75,93-bis(hydroxymethyl)-32a,35a,59a-tris[(4-hydroxyphenyl)methyl]-22-(1H-imidazol-4-ylmethyl)-96-(1H-indol-3-ylmethyl)-41a-methyl-25-(2-methylpropyl)-1a,3,4a,6,7a,9,10a,13a,15,16a,18,19a,21,22a,24,25a,27,28a,30,31a,34a,37a,38,40a,41,43a,44,47,49a,50,52a,53,55a,56,58a,59,61a,62,65,68,71,74,77,80,83,86,89,92,95,98-pentacontaoxo-33,34,63a,64a,67a,68a-hexathia-a,2,3a,5,6a,8,9a,12a,14,15a,17,18a,20,21a,23,24a,26,27a,29,30a,33a,36a,37,39a,40,42a,43,46,48a,49,51a,52,54a,55,57a,58,60a,61,64,67,70,73,76,79,82,85,88,91,94,97-pentacontazapentacyclo[85.74.4.448,111.010,14.0144,148]nonahexacontahectan-8a-yl]propanoic acid	2198828: Binding affinity to KV channel (unknown origin) assessed as inhibition constant	ki	0.0001	uM

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	4
Panobinostat	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Silicon Dioxide	decreases expression, increases expression	2
methylmercuric chloride	increases expression	1
bisphenol A	decreases methylation	1
ethyl-p-hydroxybenzoate	decreases expression	1
arsenite	increases methylation	1
methylparaben	increases expression	1
butyraldehyde	increases expression	1
maleic acid	decreases expression	1
butylparaben	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Poly(amidoamine)	decreases expression	1
bisphenol S	decreases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tretinoin	decreases expression	1
Vanadium	decreases expression	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	increases expression	1

ChEMBL screening assays

28 unique, capped per target: 25 binding, 2 functional, 1 toxicity

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1787442	Binding	Inhibition of human recombinant Kv channel at 10 uM by radioligand binding assay	Structure-activity relationships of pyrrole based S-nitrosoglutathione reductase inhibitors: pyrrole regioisomers and propionic acid replacement. — Bioorg Med Chem Lett
CHEMBL5522525	Toxicity	Inhibition of human K+ channel by automated electrophysiology	Discovery of Clinical Candidate AZD5462, a Selective Oral Allosteric RXFP1 Agonist for Treatment of Heart Failure. — J Med Chem
CHEMBL702910	Functional	Blockade of peak K+ currents against Kv3.1 gene	Alkoxypsoralens, novel nonpeptide blockers of Shaker-type K+ channels: synthesis and photoreactivity. — J Med Chem

Cellosaurus cell lines

6 cell lines: 3 induced pluripotent stem cell, 2 cancer cell line, 1 spontaneously immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1K4	PrecisION hKv3.1-CHO	Spontaneously immortalized cell line	Female
CVCL_RG02	PFIZi025-A	Induced pluripotent stem cell	Female
CVCL_ST95	HAP1 KCNC1 (-) 1	Cancer cell line	Male
CVCL_ST96	HAP1 KCNC1 (-) 2	Cancer cell line	Male
CVCL_ZX47	GZHMCi001-A	Induced pluripotent stem cell	Male
CVCL_ZX48	GZHMCi001-B	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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
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
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
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
NCT06593951	Not specified	RECRUITING	Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
NCT06923241	Not specified	COMPLETED	Nutri-score Labelling in a UK Restaurant Setting: a Randomised Control Trial
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders