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Epilepsy Behav Case Rep. 2016 Apr 23;6:42-8. doi: 10.1016/j.ebcr.2016.04.003. eCollection 2016.

Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.

Author information

1
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.
2
Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
3
Unité de Neurologie et de Neuroréhabilitation Pédiatrique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
4
Department of Paediatric Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.
5
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.

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.

KEYWORDS:

CPA6; ESES; Focal epilepsy; Pseudo-Lennox; SCN9A; SCNM1

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