Journal
BRAIN & DEVELOPMENT
Volume 35, Issue 2, Pages 155-157Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2012.07.012
Keywords
Autosomal dominant nocturnal frontal lobe epilepsy; Autism spectrum disorder; Mental retardation
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In 1999, Hirose et al. reported a Japanese family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) associated with a neuronal nicotinic acetylcholine receptor alpha 4 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. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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