title: Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.
abstract: Atypical benign partial epilepsy (ABPE) of childhood or pseudo-Lennox syndrome is a form of idiopathic focal epilepsy characterized by multiple seizure types, focal and/or generalized epileptiform discharges, continuous spike-wave during sleep (CSWS), and sometimes reversible neurocognitive deficits. There are few reported cases of ABPE describing detailed correlative longitudinal follow-up of the various associated neurocognitive, language, social communicative, or motor deficits, in parallel with the epilepsy. Furthermore, the molecular inheritance pattern for ABPE and the wider spectrum of epilepsy aphasia disorders have yet to be fully elucidated. We describe the phenotype-genotype study of a boy with ABPE with follow-up from ages 5 to 13 years showing acquired oromotor and, later, a specific lexical semantic and pervasive developmental disorder. Exome sequencing identified variants in SCN9A, CPA6, and SCNM1. A direct role of the epilepsy in the pathogenesis of the oromotor and neurocognitive deficits is apparent.
authors: Department of Paediatrics, National University of Ireland Galway & Galway University Hospital, Ireland; Department of Paediatric Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.
authors: Nicholas M
authors: NM
authors: Allen
authors: Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
authors: Judith
authors: J
authors: Conroy
authors: Unité de Neurologie et de Neuroréhabilitation Pédiatrique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors: Thierry
authors: T
authors: Deonna
authors: Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
authors: Dara
authors: D
authors: McCreary
authors: Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
authors: Paul
authors: P
authors: McGettigan
authors: Department of Paediatric Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.
authors: Cathy
authors: C
authors: Madigan
authors: Department of Paediatric Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.
authors: Imogen
authors: I
authors: Carter
authors: Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
authors: Sean
authors: S
authors: Ennis
authors: Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
authors: Sally A
authors: SA
authors: Lynch
authors: Department of Paediatric Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.
authors: Amre
authors: A
authors: Shahwan
authors: Department of Paediatric Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
authors: Mary D
authors: MD
authors: King
keywords: CPA6; ESES; Focal epilepsy; Pseudo-Lennox; SCN9A; SCNM1