Referenced in: none

Automatically associated channels: Kir2.3

Title: Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy.

Authors: Tomoko Miyajima, Tomohiro Kumada, Keiko Saito, Tatsuya Fujii

Journal, date & volume: Brain Dev., 2013 Feb , 35, 155-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22883468

Abstract
In 1999, Hirose et al. reported a Japanese family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) associated with a neuronal nicotinic acetylcholine receptor α4 subunit mutation (S252L). We followed the siblings of this family, and found that the elder brother had Asperger's disorder without mental retardation (MR) and the younger brother had autistic disorder with profound MR. The clinical epileptic features of the siblings were very similar, and both had deficits in socialization, but their cognitive development differed markedly. It thus seems that epilepsy is the direct phenotype of the S252L mutation, whereas other various factors modulate the cognitive and social development. No patients with ADNFLE have previously been reported to have autism spectrum disorder or profound MR.