Article
Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations.
Epilepsy & behavior : E&B - 1 Jul 2016
Breuillard Delphine, Leunen Dorothée, Chemaly Nicole, Auclair Laurent, Pinard Jean Marc, Kaminska Anna, Desguerre Isabelle, Ouss Lisa, Nabbout Rima
Abstract excerpt
INTRODUCTION: Autism features and various degrees of cognitive deficit are reported in patients with PCDH-19 mutations and epilepsy. Autism spectrum disorder (ASD) and, often, cognitive profile are usually assessed clinically. We studied autism phenotype and cognitive outcome in a series of patients using standardized tools for development and ASD. We aimed to describe the phenotype of ASD in this series and to...
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