Ontology highlight
ABSTRACT:
SUBMITTER: Chatron N
PROVIDER: S-EPMC6021218 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Chatron Nicolas N Møller Rikke S RS Champaigne Neena L NL Schneider Amy L AL Kuechler Alma A Labalme Audrey A Simonet Thomas T Baggett Lauren L Bardel Claire C Kamsteeg Erik-Jan EJ Pfundt Rolph R Romano Corrado C Aronsson Johan J Alberti Antonino A Vinci Mirella M Miranda Maria J MJ Lacroix Amy A Marjanovic Dragan D des Portes Vincent V Edery Patrick P Wieczorek Dagmar D Gardella Elena E Scheffer Ingrid E IE Mefford Heather H Sanlaville Damien D Carvill Gemma L GL Lesca Gaetan G
Annals of neurology 20180430 5
<h4>Objective</h4>Cut homeodomain transcription factor CUX2 plays an important role in dendrite branching, spine development, and synapse formation in layer II to III neurons of the cerebral cortex. We identify a recurrent de novo CUX2 p.Glu590Lys as a novel genetic cause for developmental and epileptic encephalopathy (DEE).<h4>Methods</h4>The de novo p.Glu590Lys variant was identified by whole-exome sequencing (n = 5) or targeted gene panel (n = 4). We performed electroclinical and imaging phen ...[more]