In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.

Abstract

Most early-onset epileptic encephalopathies (EOEE) are caused by genetic defects. In the past, mutations, especially in genes encoding sodium channels, have been identified using linkage studies, array-CGH and more recently next-generation sequencing (NGS) [1]. Mutations in SCN2A gene have been identified in a wide variety of early-onset epileptic syndromes including benign familial neonatal infantile seizures (BFNIS) [2] and more severe forms leading to encephalopathy such as Ohtahara or West syndromes [3], epilepsy of infancy with migrating focal seizures (EIMFS) [4] and autism spectrum disorders [5]. In 2013, mutations in SCN2A gene were reported with dentato-olivary dysplasia (DOD) in a single family [6] but the link between DOD and severe EOEE needs to be confirmed [6]. This article is protected by copyright. All rights reserved.