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Article

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal.

European journal of medical genetics - 1 Dec 2024

Barcia Giulia, Scorrano Giovanna, Rio Marlène, Gitiaux Cyril, Hully Marie, Poirier Karine, Besmond Claude, Munnich Arnold, Boddaert Nathalie, Chemaly Nicole, Nabbout Rima

Abstract excerpt

Biallelic pathogenic variants in CNTNAP2, a gene encoding the contactin-associated protein-like 2, have been reported in patients with various clinical presentations including intellectual disability (ID), autistic spectrum disorders (ASD), psychiatric disorders, and focal epilepsy rarely associated to focal cortical dysplasia. We report four children carrying novel biallelic CNTNAP2 pathogenic variants. They...

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Identifiers

PMID: 39423951
DOI: 10.1016/j.ejmg.2024.104979

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Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal.PMID 39423951Read ↗

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