Referenced in: none

Automatically associated channels: Nav1.3

Title: Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures.

Authors: Maria Elena Celle, Cristina Cuoco, Simona Porta, Giorgio Gimelli, Elisa Tassano

Journal, date & volume: Gene, 2013 Dec 15 , 532, 294-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24080482

Abstract
Mutations in neuronal voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A may play an important role in the etiology of neurological diseases and psychiatric disorders, besides various types of epilepsy. Here we describe a 3-year-old boy with autistic features, language delay, microcephaly and no history of seizures. Array-CGH analysis revealed an interstitial deletion of ~291.9kB at band 2q24.3 disrupting the entire SCN2A gene and part of SCN3A. We discuss the effects of haploinsufficiency of SCN2A and SCN3A on the genetic basis of neurodevelopmental and neurobehavioral disorders and we propose that this haploinsufficiency may be associated not only with epilepsy, but also with autistic features.