Journal article
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
N Chatron, RS Møller, NL Champaigne, AL Schneider, A Kuechler, A Labalme, T Simonet, L Baggett, C Bardel, EJ Kamsteeg, R Pfundt, C Romano, J Aronsson, A Alberti, M Vinci, MJ Miranda, A Lacroix, D Marjanovic, V des Portes, P Edery Show all
Annals of Neurology | WILEY | Published : 2018
DOI: 10.1002/ana.25222
Abstract
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 targeted gene panel (n = 4). We performed electroclinical and imaging phenotyping on all patients. Results: The cohort comprised 7 males and 2 females. Mean age at study was 13 years (0.5–21.0). Median age at seizure onset was 6 months (2 months to 9 years). Seizure types at onset were ..
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Awarded by National Institutes of Health
Funding Acknowledgements
G.L.C. is supported by NIH NINDS NS089858 and a CURE Taking Flight Award. Work on patient 9 was supported by the Italian Ministry of Health and '5 per mille' funding.:" H.C.M. is supported by National Institutes of Health (NINDS grant NS069605). I.E.S. is supported by the National Health and Medical Research Council of Australia.