Associated Papers
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.
Panza N et al.
Epilepsia Open, 2024
37805811 (PubMed )
Supplement: EPI4-9-417-s001.xls › Table_S2
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G et al.
Human Genetics, 2023
Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior.
Badshah N et al.
Frontiers in Neurology, 2022
Contactin-associated protein-like 2, a protein of the neurexin family involved in several human diseases.
Saint-Martin M et al.
The European Journal of Neuroscience, 2018
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.
Watson CM et al.
American Journal of Medical Genetics. Part A, 2014
Shining a light on CNTNAP2: complex functions to complex disorders.
Rodenas-Cuadrado P et al.
European Journal of Human Genetics : Ejhg, 2014
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
Gregor A et al.
Bmc Medical Genetics, 2011
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
Zweier C et al.
American Journal of Human Genetics, 2009
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