Type

Journal Article

Authors

Mary D King
Amre Shahwan
Sally A Lynch
Sean Ennis
Imogen Carter
Cathy Madigan
Paul McGettigan
Dara McCreary
Thierry Deonna
Judith Conroy
and 1 others

Subjects

Psychology

Topics
continuous wave autistic spectrum disorder childhood epilepsy lexical semantic phenotype follow up language

Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder. (2016)

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.
Collections Ireland -> National University of Ireland Galway -> PubMed

Full list of authors on original publication

Mary D King, Amre Shahwan, Sally A Lynch, Sean Ennis, Imogen Carter, Cathy Madigan, Paul McGettigan, Dara McCreary, Thierry Deonna, Judith Conroy and 1 others

Experts in our system

1
Mary D King
University College Dublin
Total Publications: 27
 
2
Amre Shahwan
National University of Ireland Galway
Total Publications: 3
 
3
Sally Ann Lynch
University College Dublin
Total Publications: 32
 
4
Sean Ennis
University College Dublin
Total Publications: 52
 
5
Paul A. McGettigan
University College Dublin
Total Publications: 44
 
6
Judith Conroy
University College Dublin
Total Publications: 24