CNTNAP2

Summary

CNTNAP2 (contactin associated protein 2, HGNC:13830) is a protein-coding gene on chromosome 7q35-q36.1, encoding Contactin-associated protein-like 2 (Q9UHC6). Required for gap junction formation.

This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability.

Source: NCBI Gene 26047 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 39
• Clinical variants (ClinVar): 2,036 total — 91 pathogenic, 51 likely-pathogenic
• Phenotypes (HPO): 119
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_014141

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13830
Approved symbol	CNTNAP2
Name	contactin associated protein 2
Location	7q35-q36.1
Locus type	gene with protein product
Status	Approved
Aliases	Caspr2, KIAA0868, NRXN4
Ensembl gene	ENSG00000174469
Ensembl biotype	protein_coding
OMIM	604569
Entrez	26047

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 18 protein_coding_CDS_not_defined, 4 protein_coding, 2 retained_intron

ENST00000361727, ENST00000455301, ENST00000463592, ENST00000602734, ENST00000625365, ENST00000627772, ENST00000628930, ENST00000631199, ENST00000636242, ENST00000636277, ENST00000636399, ENST00000636561, ENST00000636600, ENST00000636755, ENST00000636870, ENST00000636988, ENST00000637020, ENST00000637105, ENST00000637150, ENST00000637555, ENST00000637654, ENST00000637694, ENST00000637825, ENST00000638117

RefSeq mRNA: 1 — MANE Select: NM_014141 NM_014141

CCDS: CCDS5889

Canonical transcript exons

ENST00000361727 — 24 exons

Exon	Start	End
ENSE00001369406	147128693	147128836
ENSE00001369431	147043907	147044054
ENSE00001371284	147485935	147486041
ENSE00001371434	147562138	147562257
ENSE00001372119	147639106	147639306
ENSE00001379553	148267033	148267126
ENSE00001379696	148217288	148217524
ENSE00001380860	146839711	146839904
ENSE00001381673	147903565	147903721
ENSE00001384688	146116801	146116973
ENSE00001385648	147300141	147300290
ENSE00001387440	147132245	147132509
ENSE00001389105	146774271	146774381
ENSE00001389193	148118118	148118288
ENSE00001390444	148229646	148229779
ENSE00001390677	147395609	147395780
ENSE00001435314	147120979	147121163
ENSE00001435465	147108147	147108350
ENSE00003475721	148147491	148147709
ENSE00003486840	148383649	148383888
ENSE00003493470	147977862	147977989
ENSE00003580583	148415417	148420998
ENSE00003648707	148172242	148172478
ENSE00003679776	148409391	148409471

Expression profiles

Bgee: expression breadth ubiquitous, 127 present calls, max score 96.49.

FANTOM5 (CAGE): breadth broad, TPM avg 22.2030 / max 632.2223, expressed in 514 samples.

FANTOM5 promoters (27 alternative TSS)

Promoter ID	TPM avg	Samples expressed
81848	10.6432	345
81847	3.5343	368
81820	2.1372	196
81836	1.9122	76
81846	0.9336	256
81819	0.6556	131
81815	0.4514	120
81845	0.3241	147
81842	0.2427	36
81813	0.2311	83

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	96.49	gold quality
superior frontal gyrus	UBERON:0002661	96.14	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.05	gold quality
primary visual cortex	UBERON:0002436	92.93	gold quality
prefrontal cortex	UBERON:0000451	92.89	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.37	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.35	gold quality
frontal cortex	UBERON:0001870	91.93	gold quality
ganglionic eminence	UBERON:0004023	91.07	gold quality
cerebral cortex	UBERON:0000956	90.47	gold quality
right frontal lobe	UBERON:0002810	89.95	gold quality
anterior cingulate cortex	UBERON:0009835	89.11	gold quality
cortical plate	UBERON:0005343	88.47	gold quality
substantia nigra	UBERON:0002038	88.13	gold quality
hypothalamus	UBERON:0001898	87.94	gold quality
temporal lobe	UBERON:0001871	87.65	gold quality
amygdala	UBERON:0001876	87.57	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.34	gold quality
brain	UBERON:0000955	85.20	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.18	gold quality
Ammon’s horn	UBERON:0001954	85.17	gold quality
putamen	UBERON:0001874	84.71	gold quality
nucleus accumbens	UBERON:0001882	84.20	gold quality
caudate nucleus	UBERON:0001873	82.75	gold quality
adrenal tissue	UBERON:0018303	80.24	gold quality
cerebellum	UBERON:0002037	76.85	gold quality
cerebellar cortex	UBERON:0002129	76.80	gold quality
cerebellar hemisphere	UBERON:0002245	76.73	gold quality
right hemisphere of cerebellum	UBERON:0014890	76.02	gold quality
colonic epithelium	UBERON:0000397	72.34	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	11441.27
E-GEOD-180759	yes	9706.25
E-HCAD-30	yes	8728.22
E-HCAD-25	yes	7334.22
E-MTAB-11121	yes	1532.20
E-GEOD-75140	yes	1497.17
E-HCAD-5	yes	637.37
E-GEOD-93593	yes	562.68
E-MTAB-10018	yes	203.22
E-GEOD-137537	yes	7.93
E-GEOD-84465	yes	7.13
E-ANND-3	yes	7.08

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXP2, STOX1, TCF4

miRNA regulators (miRDB)

329 targeting CNTNAP2, 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-8485	100.00	77.57	4731
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4531	99.99	69.70	3181

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 40)

• CNTNAP2 is disrupted in a family with Tourette syndrome and obsessive-compulsive disorder. (PMID:12809671)
• report of a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes (PMID:16571880)
• familial balanced reciprocal translocation t(7;15)(q35;q26.1) in phenotypically normal individuals. 7q35 breakpoint disrupts CNTNAP2 gene, indicating that this gene truncation does not necessarily lead to complex Gilles de la Tourette syndrome. (PMID:17392702)
• This study reports genomic rearrangements resulting in haploinsufficiency of the CNTNAP2 gene in association with epilepsy and schizophrenia. (PMID:17646849)
• These results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures. (PMID:18179893)
• Study identified a common polymorphism in contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, that is significantly associated with autism susceptibility. (PMID:18179894)
• The proposed type 1 autism includes autism cases with the originally described premature stop codon CNTNAP2, along with other CNTNAP2 mutations. (PMID:18512134)
• On analyzing CNTNAP2 polymorphisms in children with typical specific language impairment, we detected significant quantitative associations with nonsense-word repetition, a heritable behavioral marker of this disorder (PMID:18987363)
• Both Caspr2 and carboxypeptidase E are expressed predominantly in the central nervous system and colocalized in the apical dendrites and cell bodies of cortical neurons. (PMID:19166515)
• CNTNAP2 mutation may play a role in speech delay and autism spectrum disorder [case report] (PMID:19582487)
• The PKC-dependent trafficking of Caspr2 underlies its polarized expression in hippocampal neurons. (PMID:19706678)
• CNTNAP2 is specifically associated with the emergence of ductular populations and may be identified as a novel protein for defining a subset of hepatic progenitor cells and their intermediate progeny in cirrhosis. (PMID:19889080)
• CNTNAP2 is mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determines the level of a common synaptic protein in Drosophila. (PMID:19896112)
• a risk allele for autism in the CNTNAP2 gene results in significant cerebral morphological variation, despite the absence of overt symptoms or behavioural abnormalities (PMID:20176116)
• The results of family-based association study suggested that the CNTNAP2 is a susceptibility gene of autism in the Chinese Han population. (PMID:20414140)
• These data suggest that TCF4, NRXN1, and CNTNAP2 may participate in a biological pathway that is altered in patients with schizophrenia and other neuropsychiatric disorders. (PMID:20421335)
• ASD could be differentiated from ADHD with nominal statistical significance by the 5HTTLPR, and the polymorphisms in TPH2 and CNTNAP2. (PMID:20446882)
• CASPR2 acts as a tumor suppressor gene in glioma. (PMID:20711234)
• Our study data show evidence for association of CNTNAP2 with PEX syndrome and PEXG in German patients. (PMID:20808326)
• Results provide evidence that genetic variation at CNTNAP2 predisposes to diseases such as autism in part through modulation of frontal lobe connectivity. (PMID:21048216)
• These findings suggest a partially shared etiology between autism spectrum disorders and selective mutism with at least some aspects being influenced by CNTNAP2. (PMID:21193173)
• Our study suggests that common variants in the exon 13-15 region of CNTNAP2 influence early language acquisition, as assessed at age 2, in the general population. (PMID:21310003)
• Caspr2 is an autoantigen of encephalitis and peripheral nerve hyperexcitability previously attributed to voltage-gated potassium channels antibodies. (PMID:21387375)
• For a number of genes affected by de novo copy number variants (CNVs) in autism (CNTNAP2, ZNF214, ARID1B, Proline Dehydrogenase), reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment. (PMID:21448237)
• The mutational testing found heterozygous splice-site, frameshift mutation and stop mutations in CNTNAP2 in four patients. (PMID:21827697)
• risk associated variation in the CNTNAP2 gene impacts on brain activation in healthy non-autistic individuals during a language processing task providing evidence of the effect of genetic variation in CNTNAP2 on a core feature of autism spectrum disorders (PMID:21987501)
• Neurobiological, genetic, and imaging data provide strong evidence for the CNTNAP2 gene as a risk factor for ASD and related neurodevelopmental disorders. [Review] (PMID:22365836)
• We investigated the association between the SNPs rs2107856 and rs2141388 and PEX in Polish population. (PMID:22429864)
• In graph theory analyses young adults with autism who are homozygous for the risk allele in CNTNAP2 have lower characteristic path length, greater small-worldness and global efficiency in whole brain analyses and greater eccentricity in regional analyses. (PMID:22500773)
• The variants, rs1404699 and rs7803992, of CNTNAP2 are associated with exfoliation syndrome in the Japanese population. (PMID:22690117)
• CNTNAP2 expression is downregulated by STOX1A in the hippocampus of Alzheimer’s disease patients. (PMID:22728895)
• Overall, our study found a significant association of IL-17RC gene polymorphisms with AIS in a Chinese Han population, indicating IL-17RC gene may be as a susceptibility gene for AIS. (PMID:22744455)
• these data indicate that CASPR2-D1129H has severe trafficking abnormalities and CASPR2-1253* is a secreted soluble protein, suggesting that the structural or signaling functions of the membrane tethered form are lost (PMID:22872700)
• Five genes have been directly disrupted in Tourette Syndrome by independent genomic rearrangements and copy number variations with unique breakpoints. (PMID:22948383)
• data suggest that in addition to the previously described role of CASPR2 in mature neurons, where CASPR2 organizes nodal microdomains of myelinated axons (PMID:23074245)
• While both AA homozygotes and T-carriers showed a standard N400 effect to semantic anomalies, the response to subject-verb agreement violations differed across CNTNAP2 genotype groups (PMID:23115634)
• The results of this study found that the genotypes of rs17236239 were significantly associated with schizophrenia and the alleles of rs2710102 and rs2710117 were significantly associated with major depression (PMID:23123147)
• No evidence for the association of FOXP2 and CNTNAP2 genes with language traits was observed in this analysis. (PMID:23277129)
• CASPR2 immunoglobulin G (IgG) seropositivity was associated with peripheral motor excitability. (PMID:23407760)
• The role of CNTNAP2 in diverse neurological disorders. [Review] (PMID:23714751)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cntnap2b	ENSDARG00000074558
mus_musculus	Cntnap2	ENSMUSG00000039419
rattus_norvegicus	Cntnap2	ENSRNOG00000006617

Paralogs (35): NRXN3 (ENSG00000021645), TLL1 (ENSG00000038295), CP (ENSG00000047457), DCBLD2 (ENSG00000057019), HEPH (ENSG00000089472), TLL2 (ENSG00000095587), NRP1 (ENSG00000099250), PCOLCE (ENSG00000106333), CNTNAP3 (ENSG00000106714), CUBN (ENSG00000107611), CNTNAP1 (ENSG00000108797), NRXN2 (ENSG00000110076), MEP1A (ENSG00000112818), NRP2 (ENSG00000118257), CUZD1 (ENSG00000138161), MFGE8 (ENSG00000140545), MEP1B (ENSG00000141434), PDGFC (ENSG00000145431), CNTNAP4 (ENSG00000152910), CNTNAP3B (ENSG00000154529), CNTNAP5 (ENSG00000155052), CDCP2 (ENSG00000157211), PCOLCE2 (ENSG00000163710), EDIL3 (ENSG00000164176), NETO1 (ENSG00000166342), BMP1 (ENSG00000168487), PDGFD (ENSG00000170962), NETO2 (ENSG00000171208), NRXN1 (ENSG00000179915), HEPHL1 (ENSG00000181333), F8 (ENSG00000185010), ASTL (ENSG00000188886), F5 (ENSG00000198734), MFRP (ENSG00000235718), CNTNAP3C (ENSG00000283378)

Protein

Protein identifiers

Contactin-associated protein-like 2 — Q9UHC6 (reviewed: Q9UHC6)

Alternative names: Cell recognition molecule Caspr2

All UniProt accessions (4): A0A090N7T7, A0A0D9SES4, B7Z1Y6, Q9UHC6

UniProt curated annotations — full annotation on UniProt →

Function. Required for gap junction formation. Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction.

Subunit / interactions. Interacts (via C-terminus) with KCNA2. Interacts with GPR37.

Subcellular location. Membrane. Cell projection. Axon. Cell junction. Paranodal septate junction.

Tissue specificity. Predominantly expressed in nervous system.

Disease relevance. Autism 15 (AUTS15) [MIM:612100] A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. Disease susceptibility is associated with variants affecting the gene represented in this entry. A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv(7)(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2. Pitt-Hopkins-like syndrome 1 (PTHSL1) [MIM:610042] A syndrome characterized by severe intellectual disability and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt-Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the neurexin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UHC6-1	1	yes
Q9UHC6-2	2

RefSeq proteins (1): NP_054860* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000421	FA58C	Domain
IPR000742	EGF	Domain
IPR001791	Laminin_G	Domain
IPR002181	Fibrinogen_a/b/g_C_dom	Domain
IPR003585	Neurexin-like	Domain
IPR008979	Galactose-bd-like_sf	Homologous_superfamily
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR036056	Fibrinogen-like_C	Homologous_superfamily
IPR050372	Neurexin-related_CASP	Family

Pfam: PF00754, PF02210

UniProt features (73 total): sequence variant 22, glycosylation site 12, disulfide bond 11, domain 8, strand 8, helix 3, modified residue 2, topological domain 2, signal peptide 1, chain 1, region of interest 1, transmembrane region 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5Y4M	X-RAY DIFFRACTION	1.31

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UHC6-F1	83.81	0.58

Functional residue map

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

Post-translational modifications (2): 1303, 1306

Disulfide bonds (11): 35–181, 336–368, 520–552, 558–569, 563–578, 580–590, 936–963, 967–980, 974–989, 991–1001, 1178–1214

Glycosylation sites (12): 289, 346, 363, 379, 436, 506, 507, 546, 630, 735, 1116, 1198

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 514 (showing top): RRAGTTGT_UNKNOWN, LEE_NEURAL_CREST_STEM_CELL_DN, GOBP_NEURON_RECOGNITION, GOBP_COGNITION, GOBP_BEHAVIOR, GOBP_NEURON_MATURATION, TTTGTAG_MIR520D, GOBP_ADULT_BEHAVIOR, GOCC_CELL_SURFACE, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_FOREBRAIN_DEVELOPMENT, MODULE_66, GOBP_STARTLE_RESPONSE

GO Biological Process (23): cell adhesion (GO:0007155), brain development (GO:0007420), learning (GO:0007612), neuron recognition (GO:0008038), cell population proliferation (GO:0008283), transmission of nerve impulse (GO:0019226), striatum development (GO:0021756), limbic system development (GO:0021761), thalamus development (GO:0021794), cerebral cortex development (GO:0021987), adult behavior (GO:0030534), neuron projection development (GO:0031175), social behavior (GO:0035176), vocal learning (GO:0042297), clustering of voltage-gated potassium channels (GO:0045163), neuron projection morphogenesis (GO:0048812), prepulse inhibition (GO:0060134), superior temporal gyrus development (GO:0071109), protein localization to juxtaparanode region of axon (GO:0071205), vocalization behavior (GO:0071625), positive regulation of gap junction assembly (GO:1903598), startle response (GO:0001964), central nervous system development (GO:0007417)

GO Molecular Function (4): protease binding (GO:0002020), enzyme binding (GO:0019899), transmembrane transporter binding (GO:0044325), protein binding (GO:0005515)

GO Cellular Component (19): early endosome (GO:0005769), Golgi apparatus (GO:0005794), voltage-gated potassium channel complex (GO:0008076), cell surface (GO:0009986), membrane (GO:0016020), axon (GO:0030424), dendrite (GO:0030425), axolemma (GO:0030673), paranodal junction (GO:0033010), paranode region of axon (GO:0033270), presynaptic membrane (GO:0042734), neuronal cell body (GO:0043025), perikaryon (GO:0043204), juxtaparanode region of axon (GO:0044224), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982), cell projection (GO:0042995), anchoring junction (GO:0070161), synaptic membrane (GO:0097060)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
anatomical structure development	4
behavior	3
main axon	3
synapse	3
cellular process	2
neuron development	2
protein binding	2
neuron projection	2
central nervous system development	1
animal organ development	1
head development	1
learning or memory	1
cell recognition	1
action potential	1
cell communication	1
chemical synaptic transmission	1
nervous system process	1
subpallium development	1
forebrain development	1
system development	1
diencephalon development	1
pallium development	1
plasma membrane bounded cell projection organization	1
biological process involved in intraspecies interaction between organisms	1
auditory behavior	1
imitative learning	1
learned vocalization behavior or vocal learning	1
neuronal ion channel clustering	1
neuron projection development	1
plasma membrane bounded cell projection morphogenesis	1
startle response	1
negative regulation of response to external stimulus	1
cerebral cortex development	1
protein localization to axon	1
enzyme binding	1
binding	1
endosome	1
cytoplasm	1
endomembrane system	1

Protein interactions and networks

STRING

1930 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CNTNAP2	CNTN2	P78432	996
CNTNAP2	LGI1	O95970	994
CNTNAP2	FOXP2	O15409	978
CNTNAP2	KCNA1	Q09470	978
CNTNAP2	KCNA2	P16389	976
CNTNAP2	NLGN3	Q9NZ94	904
CNTNAP2	ADAM22	Q9P0K1	852
CNTNAP2	NLGN4X	Q8N0W4	852
CNTNAP2	AUTS2	Q8WXX7	828
CNTNAP2	DPP6	P42658	818
CNTNAP2	DPP10	Q8N608	817
CNTNAP2	GAD2	Q05329	814
CNTNAP2	SHANK2	Q9UPX8	813
CNTNAP2	DPYSL5	Q9BPU6	810
CNTNAP2	IGLON5	A6NGN9	800

IntAct

142 interactions, top by confidence:

A	B	Type	Score
GORASP2	CNTNAP2	psi-mi:“MI:0915”(physical association)	0.680
CNTNAP2	GORASP2	psi-mi:“MI:0407”(direct interaction)	0.680
CNTNAP2	CASK	psi-mi:“MI:0407”(direct interaction)	0.610
CASK	CNTNAP2	psi-mi:“MI:0915”(physical association)	0.610
MEOX2	CNTNAP2	psi-mi:“MI:0915”(physical association)	0.560
CNTNAP2	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
POLR2G	CNTNAP2	psi-mi:“MI:0915”(physical association)	0.560
CNTNAP2	CNTN1	psi-mi:“MI:0915”(physical association)	0.460
CNTN1	CNTNAP2	psi-mi:“MI:0403”(colocalization)	0.460
CNTN1	CNTNAP2	psi-mi:“MI:0915”(physical association)	0.460
CNTNAP2	CNTN1	psi-mi:“MI:0403”(colocalization)	0.460
CNTNAP2	MPP7	psi-mi:“MI:0407”(direct interaction)	0.440
PATJ	CNTNAP2	psi-mi:“MI:0407”(direct interaction)	0.440
CNTNAP2	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
CNTNAP2	PARD3	psi-mi:“MI:0407”(direct interaction)	0.440
CNTNAP2	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
CNTNAP2	LNX2	psi-mi:“MI:0407”(direct interaction)	0.440
CNTNAP2	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
CNTNAP2	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
PDZD2	CNTNAP2	psi-mi:“MI:0407”(direct interaction)	0.440
PALS2	CNTNAP2	psi-mi:“MI:0407”(direct interaction)	0.440
GRIP2	CNTNAP2	psi-mi:“MI:0407”(direct interaction)	0.440
CNTNAP2	GORASP1	psi-mi:“MI:0407”(direct interaction)	0.440
CNTNAP2	NOS1	psi-mi:“MI:0407”(direct interaction)	0.440
CNTNAP2	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
CNTNAP2	HTRA3	psi-mi:“MI:0407”(direct interaction)	0.440
CNTNAP2	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
CNTNAP2	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (25): CNTNAP2 (Two-hybrid), CNTNAP2 (Affinity Capture-Western), CNTN2 (Affinity Capture-Western), CNTNAP2 (Co-localization), CNTNAP2 (Affinity Capture-Western), CPE (Two-hybrid), CPE (Reconstituted Complex), CNTNAP2 (Affinity Capture-Western), CNTNAP2 (Two-hybrid), CNTNAP2 (Two-hybrid), CNTNAP2 (Affinity Capture-MS), EPB41L3 (Reconstituted Complex), CASK (Reconstituted Complex), CNTN2 (Affinity Capture-Western), CNTNAP2 (Affinity Capture-Western)

ESM2 similar proteins: A0A292G9J6, A0A8M9PFP2, A1L2K1, A2A863, A7E2Z9, B0S5G3, B5MFE9, F1R520, F7A4A7, F8VQ03, O93449, O94985, P16144, P35447, P53813, P98089, Q08761, Q0V9V5, Q0VCN6, Q28483, Q3ZCN5, Q5R9Q9, Q5RCW9, Q5RD64, Q61592, Q63772, Q64632, Q6DDW2, Q6DFV8, Q6PZE0, Q6Q0N0, Q8BH34, Q8BJD1, Q8CFM6, Q8CIZ8, Q8CJ69, Q8K410, Q8N2E2, Q8N8U9, Q8R553

Diamond homologs: A0JP86, A2ASQ1, A3KN33, A5YT95, D0NJ41, D3ZT86, G5ECE3, O00468, O00634, O09118, O15230, O62650, O75093, O75445, O88279, O94813, O95631, P01005, P02468, P02469, P07942, P0DKM8, P0DKM9, P10669, P11046, P11047, P15215, P15800, P16895, P19883, P21674, P24043, P25304, P31514, P31515, P31696, P34710, P47931, P50291, P55268

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
TCF4	“up-regulates quantity by expression”	CNTNAP2	“transcriptional regulation”
STOX1	“down-regulates quantity by repression”	CNTNAP2	“transcriptional regulation”
CNTNAP2	“up-regulates activity”	CNTN1	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 90 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	50.1×	3e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	47.7×	3e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	47.7×	3e-06
Long-term potentiation	5	41.7×	5e-06
Assembly and cell surface presentation of NMDA receptors	8	35.6×	6e-09
Neurexins and neuroligins	9	31.1×	3e-09
Protein-protein interactions at synapses	5	23.3×	9e-05
RHOB GTPase cycle	5	13.5×	9e-04

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	74.3×	6e-16
protein localization to synapse	6	53.4×	1e-07
receptor clustering	7	50.8×	2e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	7	40.3×	7e-08
cell-cell adhesion	11	13.0×	1e-07
protein-containing complex assembly	9	11.9×	5e-06
chemical synaptic transmission	7	6.3×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

2036 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	91
Likely pathogenic	51
Uncertain significance	966
Likely benign	640
Benign	118

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1075739	NC_000007.13:g.(?146740989)(146741156_?)del	Pathogenic
1075740	NC_000007.13:g.(?146471353)(146537006_?)del	Pathogenic
1164026	NM_014141.6(CNTNAP2):c.2151C>A (p.Tyr717Ter)	Pathogenic
1359063	NM_014141.6(CNTNAP2):c.2396del (p.Asn799fs)	Pathogenic
1371355	NM_014141.6(CNTNAP2):c.401G>A (p.Trp134Ter)	Pathogenic
1385730	NM_014141.6(CNTNAP2):c.2117G>A (p.Trp706Ter)	Pathogenic
1398096	NM_014141.6(CNTNAP2):c.2011C>T (p.Gln671Ter)	Pathogenic
1421354	NC_000007.13:g.(?146536783)(146537016_?)del	Pathogenic
1427707	NM_014141.6(CNTNAP2):c.1843dup (p.Asp615fs)	Pathogenic
1442081	NM_014141.6(CNTNAP2):c.655del (p.Ser219fs)	Pathogenic
1453578	NM_014141.6(CNTNAP2):c.1295del (p.Gly432fs)	Pathogenic
1455600	NM_014141.6(CNTNAP2):c.2910T>A (p.Tyr970Ter)	Pathogenic
1456382	NC_000007.13:g.(?145813969)(148112708_?)del	Pathogenic
1456383	NC_000007.13:g.(?145813969)(145814085_?)del	Pathogenic
1456387	NC_000007.13:g.(?145813969)(146537016_?)del	Pathogenic
1457131	NM_014141.6(CNTNAP2):c.782_783insGA (p.His262fs)	Pathogenic
1459759	NC_000007.13:g.(?146740979)(146829621_?)del	Pathogenic
1460167	NC_000007.13:g.(?147183007)(147183153_?)del	Pathogenic
151960	GRCh38/hg38 7q35(chr7:146743098-146966208)x1	Pathogenic
1526249	NM_014141.6(CNTNAP2):c.551G>A (p.Trp184Ter)	Pathogenic
1699310	NM_014141.6(CNTNAP2):c.648dup (p.Lys217Ter)	Pathogenic
1785929	NM_014141.6(CNTNAP2):c.2101G>T (p.Gly701Ter)	Pathogenic
1802571	NM_014141.6(CNTNAP2):c.1777+2T>C	Pathogenic
1805512	NM_014141.6(CNTNAP2):c.2569del (p.Ser857fs)	Pathogenic
2004789	NM_014141.6(CNTNAP2):c.610A>T (p.Lys204Ter)	Pathogenic
2012580	NM_014141.6(CNTNAP2):c.773_774dup (p.Ile259fs)	Pathogenic
205241	NM_014141.6(CNTNAP2):c.1346C>G (p.Ser449Ter)	Pathogenic
205244	NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter)	Pathogenic
205304	NM_014141.6(CNTNAP2):c.851del (p.Gln284fs)	Pathogenic
2091799	NM_014141.6(CNTNAP2):c.2929G>T (p.Gly977Ter)	Pathogenic

SpliceAI

4326 predictions. Top by Δscore:

Variant	Effect	Δscore
7:146116969:GTCCC:G	donor_gain	1.0000
7:146116974:G:GG	donor_gain	1.0000
7:146119571:G:GT	donor_gain	1.0000
7:146119571:G:T	donor_gain	1.0000
7:146116970:TCCC:T	donor_gain	0.9900
7:146116972:CC:C	donor_gain	0.9900
7:146148553:T:A	acceptor_gain	0.9900
7:146157257:A:AG	acceptor_gain	0.9900
7:146157260:A:AG	acceptor_gain	0.9900
7:146172642:T:G	donor_gain	0.9900
7:146172642:T:TG	donor_gain	0.9900
7:146172928:TCCTG:T	donor_gain	0.9900
7:146205889:T:TA	acceptor_gain	0.9900
7:146205889:TGGG:T	acceptor_gain	0.9900
7:146205890:G:A	acceptor_gain	0.9900
7:146316256:T:A	acceptor_gain	0.9900
7:146378473:G:GG	donor_gain	0.9900
7:146116971:CCCG:C	donor_loss	0.9800
7:146116972:CCG:C	donor_loss	0.9800
7:146116973:CGT:C	donor_loss	0.9800
7:146116974:GTA:G	donor_loss	0.9800
7:146116975:T:TC	donor_loss	0.9800
7:146116976:AAGTA:A	donor_loss	0.9800
7:146119568:TGGG:T	donor_gain	0.9800
7:146119660:GAGAT:G	donor_gain	0.9800
7:146123996:G:GT	donor_gain	0.9800
7:146130024:G:GT	donor_gain	0.9800
7:146198821:T:TA	donor_gain	0.9800
7:146198822:A:AA	donor_gain	0.9800
7:146361261:G:GT	donor_gain	0.9800

AlphaMissense

8827 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:146839722:T:A	W74R	1.000
7:146839722:T:C	W74R	1.000
7:147639278:C:G	C690W	1.000
7:148147582:G:C	W882C	1.000
7:148147582:G:T	W882C	1.000
7:148172469:T:A	C1001S	1.000
7:148172470:G:C	C1001S	1.000
7:148229754:G:C	R1119P	1.000
7:146839724:G:C	W74C	0.999
7:146839724:G:T	W74C	0.999
7:146839874:G:C	W124C	0.999
7:146839874:G:T	W124C	0.999
7:147121072:G:C	R283P	0.999
7:147300166:G:C	W458C	0.999
7:147300166:G:T	W458C	0.999
7:147395668:T:A	C520S	0.999
7:147395669:G:C	C520S	0.999
7:147485951:T:A	C563S	0.999
7:147485952:G:A	C563Y	0.999
7:147485952:G:C	C563S	0.999
7:147485953:T:G	C563W	0.999
7:147485969:T:A	C569S	0.999
7:147485969:T:C	C569R	0.999
7:147485970:G:C	C569S	0.999
7:147485996:T:A	C578S	0.999
7:147485996:T:C	C578R	0.999
7:147485997:G:C	C578S	0.999
7:147562247:C:G	C629W	0.999
7:147639276:T:A	C690S	0.999
7:147639276:T:C	C690R	0.999

dbSNP variants (sampled 300 via entrez): RS1000002487 (7:147984974 G>A,T), RS1000003500 (7:147829858 G>A), RS1000004295 (7:146440122 T>A,C), RS1000005215 (7:146881523 G>A,T), RS1000005283 (7:147082937 C>T), RS1000006314 (7:147058675 C>T), RS1000006316 (7:147425323 T>C,G), RS1000007898 (7:147176611 A>G), RS1000009831 (7:146855792 T>C), RS1000010580 (7:147325930 C>A), RS1000011979 (7:147629194 G>A,C), RS1000012116 (7:146659539 A>G), RS1000012881 (7:146905186 A>G,T), RS1000016057 (7:147479534 T>A), RS1000016745 (7:146362986 G>A,C,T)

Disease associations

OMIM: gene MIM:604569 | disease phenotypes: MIM:610042, MIM:612100, MIM:117100, MIM:181500, MIM:118220, MIM:192350, MIM:209850

GenCC curated gene-disease

Disease	Classification	Inheritance
cortical dysplasia-focal epilepsy syndrome	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	AR
complex neurodevelopmental disorder	Disputed	AD

Mondo (12): cortical dysplasia-focal epilepsy syndrome (MONDO:0012400), autism, susceptibility to, 15 (MONDO:0012801), self-limited epilepsy with centrotemporal spikes (MONDO:0007295), intellectual disability (MONDO:0001071), schizophrenia (MONDO:0005090), Pitt-Hopkins-like syndrome (MONDO:0016377), Charcot-Marie-Tooth disease (MONDO:0015626), schizoaffective depressive disorder (MONDO:1060152), autism spectrum disorder (MONDO:0005258), VACTERL/vater association (MONDO:0008642), epilepsy (MONDO:0005027), autism (MONDO:0005260)

Orphanet (8): CNTNAP2-related developmental and epileptic encephalopathy (Orphanet:163681), OBSOLETE: Pitt-Hopkins-like syndrome (Orphanet:221150), Self-limited epilepsy with centrotemporal spikes (Orphanet:1945), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166), VACTERL/VATER association (Orphanet:887), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

119 total (30 of 119 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000154	Wide mouth
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000294	Low anterior hairline
HP:0000303	Mandibular prognathia
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000322	Short philtrum
HP:0000337	Broad forehead
HP:0000341	Narrow forehead
HP:0000365	Hearing impairment
HP:0000400	Macrotia
HP:0000414	Bulbous nose
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000527	Long eyelashes
HP:0000582	Upslanted palpebral fissure
HP:0000639	Nystagmus
HP:0000664	Synophrys
HP:0000687	Widely spaced teeth
HP:0000691	Microdontia
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0000718	Aggressive behavior
HP:0000729	Autistic behavior

GWAS associations

39 associations (top):

Study	Trait	p-value
GCST000092_6	Bone mineral density	3.000000e-06
GCST000821_68	Bipolar disorder and schizophrenia	2.000000e-07
GCST001342_7	Alzheimer’s disease	9.000000e-06
GCST001524_2	Visceral adipose tissue/subcutaneous adipose tissue ratio	9.000000e-06
GCST001762_757	Obesity-related traits	9.000000e-06
GCST001890_11	QT interval (drug interaction)	4.000000e-06
GCST002431_8	Response to radiotherapy in cancer (late toxicity)	7.000000e-06
GCST002491_29	Age-related hearing impairment	4.000000e-06
GCST002805_1	Body mass index	7.000000e-06
GCST002954_2	Alzheimer’s disease (late onset)	1.000000e-06
GCST003043_134	Inflammatory bowel disease	3.000000e-11
GCST003044_40	Crohn’s disease	1.000000e-09
GCST003045_27	Ulcerative colitis	3.000000e-07
GCST003098_27	Diabetic kidney disease	4.000000e-06
GCST003863_2	Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes	6.000000e-07
GCST004029_10	Angiotensin-converting enzyme inhibitor intolerance	3.000000e-06
GCST004587_1	Body mass index (dietary energy interaction)	1.000000e-06
GCST004862_124	Itch intensity from mosquito bite adjusted by bite size	7.000000e-06
GCST005023_48	Initial pursuit acceleration	3.000000e-06
GCST005182_11	Common carotid intima-media thickness in HIV negative individuals	4.000000e-06
GCST006482_9	Lung function (FEV1/FVC)	3.000000e-08
GCST006585_1424	Blood protein levels	5.000000e-15
GCST006617_5	Uterine fibroid size (maximum volume)	4.000000e-07
GCST007283_1	LDL cholesterol x physical activity interaction (1df test)	2.000000e-06
GCST007284_18	LDL cholesterol x physical activity interaction (2df test)	4.000000e-08
GCST007320_55	Alzheimer’s disease or family history of Alzheimer’s disease	2.000000e-09
GCST007321_20	Family history of Alzheimer’s disease	2.000000e-09
GCST008522_73	Bitter alcoholic beverage consumption	3.000000e-06
GCST008667_10	Smoking status (heavy vs never)	2.000000e-07
GCST009026_1	Alzheimer’s disease and/or vascular dementia (clinical subgroup VaD++)	2.000000e-08

EFO canonical traits (22, from GWAS)

EFO ID	Trait name
EFO:0004767	visceral:subcutaneous adipose tissue ratio
EFO:0004682	QT interval
EFO:0007916	response to tricyclic antidepressant
EFO:0005937	longitudinal BMI measurement
EFO:0005325	response to angiotensin-converting enzyme inhibitor
EFO:0004340	body mass index
EFO:0008111	diet measurement
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0008434	initial pursuit acceleration
EFO:0004713	FEV/FVC ratio
EFO:0009410	uterine fibroid measurement
EFO:0003940	physical activity
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0009268	family history of Alzheimer’s disease
EFO:0010092	bitter alcoholic beverage consumption measurement
EFO:0006527	smoking status measurement
EFO:0004327	electrocardiography
EFO:0004530	triglyceride measurement
EFO:0009923	Peptic ulcer and gastro-oesophageal reflux disease (GORD) drug use measurement
EFO:0004459	ferritin measurement
EFO:0600001	ghrelin measurement

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
D002607	Charcot-Marie-Tooth Disease	C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200
D004827	Epilepsy	C10.228.140.490
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C567657	Cortical Dysplasia-Focal Epilepsy Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11763492	CNTNAP2		0.00	0
rs13223171	CNTNAP2		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases expression	7
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	affects methylation, increases expression	3
Tobacco Smoke Pollution	affects expression, affects methylation, decreases methylation	3
Aflatoxin B1	decreases expression, decreases methylation, increases methylation	3
Arsenic	affects methylation, increases abundance, increases expression	2
Benzo(a)pyrene	increases methylation, affects methylation	2
Tretinoin	decreases expression	2
methylmercuric chloride	increases expression	1
bisphenol A	decreases methylation	1
sodium arsenate	increases abundance, increases expression	1
terbufos	increases methylation	1
tobacco tar	decreases expression	1
aflatoxin B2	affects methylation	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	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	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
bisphenol S	decreases methylation	1
Fulvestrant	increases methylation	1
Vorinostat	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cisplatin	affects response to substance	1
Cotinine	affects methylation	1
Diethylnitrosamine	increases expression	1
Fonofos	increases methylation	1
Parathion	increases methylation	1
Pesticides	affects methylation	1

Cellosaurus cell lines

10 cell lines: 4 transformed cell line, 3 cancer cell line, 2 induced pluripotent stem cell, 1 finite cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B8DX	Abcam HCT 116 CNTNAP2 KO	Cancer cell line	Male
CVCL_B8U8	Abcam MCF-7 CNTNAP2 KO	Cancer cell line	Female
CVCL_B9G5	Abcam A-549 CNTNAP2 KO	Cancer cell line	Male
CVCL_C7LX	GM28577	Induced pluripotent stem cell	Female
CVCL_E4QC	KOLF2.1J CNTNAP2 81.7kbdel DEL/DEL	Induced pluripotent stem cell	Male
CVCL_JF30	GM25395	Transformed cell line	Female
CVCL_JF31	GM25396	Transformed cell line	Male
CVCL_JF32	GM25397	Transformed cell line	Female
CVCL_WP04	GM27300	Finite cell line	Female
CVCL_YN13	GM27325	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03490487	PHASE4	UNKNOWN	Electroclinical Effect of Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes
NCT04610879	PHASE4	TERMINATED	Changing Agendas on Sleep, Treatment and Learning in Epilepsy
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)
NCT01046760	Not specified	UNKNOWN	Scholar Performance and Praxis Assessment in Children With Rolandic Epilepsy
NCT01335425	Not specified	COMPLETED	The Rolandic Epilepsy/ESES/Landau-Kleffner Syndrome and Correlation With Language Impairment Study
NCT01515436	Not specified	COMPLETED	The Effect of Music Periodicity on Interictal Epileptiform Discharges
NCT03465566	Not specified	UNKNOWN	Emotion Recognition in Benign Epilepsy of Childhood With Centro-Temporal Spikes (BECTS)
NCT03547050	Not specified	COMPLETED	Rolandic Epilepsy Genomewide Association International Study
NCT03865771	Not specified	RECRUITING	Sleep Related Memory Consolidation in Children With Age Related Focal Epilepsy.
NCT04325282	Not specified	COMPLETED	Transcranial Magnetic Stimulation for BECTS
NCT04357236	Not specified	COMPLETED	18F-FDG PET Imaging Analysis of Antiepileptic Drug Response in BECTS
NCT04569708	Not specified	COMPLETED	Sleep Spindles and Memory in Rolandic Epilepsy
NCT06545708	Not specified	RECRUITING	Music Perception in SeLECTs
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
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