Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.

doi:10.1136/jmedgenet-2016-103880

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Article

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.

Journal of medical genetics - 1 Dec 2016

Smogavec Mateja, Cleall Alison, Hoyer Juliane, Lederer Damien, Nassogne Marie-Cécile, Palmer Elizabeth E, Deprez Marie, Benoit Valérie, Maystadt Isabelle, Noakes Charlotte, Leal Alejandro, Shaw Marie, Gecz Jozef, Raymond Lucy, Reis André, Shears Deborah, Brockmann Knut, Zweier Christiane

Abstract excerpt

BACKGROUND: Heterozygous copy number variants (CNVs) or sequence variants in the contactin-associated protein 2 gene CNTNAP2 have been discussed as risk factors for a wide spectrum of neurodevelopmental and neuropsychiatric disorders. Bi-allelic aberrations in this gene are causative for an autosomal-recessive disorder with epilepsy, severe intellectual disability (ID) and cortical dysplasia (CDFES). As the...

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PMID: 27439707
DOI: 10.1136/jmedgenet-2016-103880

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CNTNAP2

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