Article
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Annals of neurology - 1 May 2018
Chatron Nicolas, Møller Rikke S, Champaigne Neena L, Schneider Amy L, Kuechler Alma, Labalme Audrey, Simonet Thomas, Baggett Lauren, Bardel Claire, Kamsteeg Erik-Jan, Pfundt Rolph, Romano Corrado, Aronsson Johan, Alberti Antonino, Vinci Mirella, Miranda Maria J, Lacroix Amy, Marjanovic Dragan, des Portes Vincent, Edery Patrick, Wieczorek Dagmar, Gardella Elena, Scheffer Ingrid E, Mefford Heather, Sanlaville Damien, Carvill Gemma L, Lesca Gaetan
Abstract excerpt
OBJECTIVE: 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). METHODS: The de novo p.Glu590Lys variant was identified by whole-exome sequencing (n = 5) or...
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