CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

Demarest, Scott; E. Olson, Heather; Moss, Angela; Pestana‐Knight, Elia; Zhang, Xiaoming; Parikh, Sumit; C. Swanson, Lindsay; D. Riley, Katherine; A. Bazin, Grace; Angione, Katie; Niestroj, Lisa‐Marie; Lal, Dennis; Juarez‐Colunga, Elizabeth; A. Benke, Tim

doi:10.1111/epi.16285

Public

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

Published in Epilepsia • Jul 16, 2019

Authors:

Scott Demarest

Heather E. Olson

Angela Moss

Abstract

OBJECTIVE: The cyclin-dependent kinase like 5 (CDKL5) gene is a known cause of early onset developmental and epileptic encephalopathy, also known as CDKL5 deficiency disorder (CDD). We sought to (1) provide a description of seizure types in patients with CDD, (2) provide an assessment of the frequen...

Subject

Hypsarrhythmia

Epilepsy

Interquartile range

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