CDKL5 and ARX Mutations in Males with Early-onset Epilepsy

Overview

Journal Pediatr Neurol

Specialties Neurology
Pediatrics

Date 2013 Apr 16

PMID 23583054

Citations 21

Authors

Ghayda M Mirzaa

Alex R Paciorkowski

Eric D Marsh

Elizabeth M Berry-Kravis

Livija Medne

Asem Alkhateeb

Art Grix

Elaine C Wirrell

Berkley R Powell

Katherine C Nickels

Barbara Burton

Andrea Paras

Katherine Kim

Wendy Chung

William B Dobyns

Soma Das

Affiliations

Soon will be listed here.

Abstract

Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absent speech, and stereotypic hand movements. To date, only 10 males with CDKL5 mutations have been reported. Our retrospective study reports on the clinical, neuroimaging, and molecular findings of 18 males with early-onset epilepsy caused by either CDKL5 or ARX mutations. These 18 patients include eight new males with CDKL5 mutations and 10 with ARX mutations identified through sequence analysis of 266 and 346 males, respectively, at our molecular diagnostic laboratory. Our large dataset therefore expands on the number of reported males with CDKL5 mutations and highlights that aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys.

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