Article
CDKL5 and ARX mutations in males with early-onset epilepsy.
Pediatric neurology - 1 May 2013
Mirzaa Ghayda M, Paciorkowski Alex R, Marsh Eric D, Berry-Kravis Elizabeth M, Medne Livija, Alkhateeb Asem, Grix Art, Wirrell Elaine C, Powell Berkley R, Nickels Katherine C, Burton Barbara, Paras Andrea, Kim Katherine, Chung Wendy, Dobyns William B, Das Soma
Abstract excerpt
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...
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