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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
CDKL5 and ARX mutations in males with early-onset epilepsy
Pediatric Neurology, Volume 48, No. 5, Year 2013
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Description
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. © 2013 Elsevier Inc. All rights reserved.
Authors & Co-Authors
Mirzaa, Ghayda M.
United States, Seattle
University of Washington
Paciorkowski, Alexander R.
United States, Rochester
University of Rochester Medical Center
Marsh, Eric D.
United States, Philadelphia
The Children's Hospital of Philadelphia
United States, Philadelphia
University of Pennsylvania Perelman School of Medicine
Berry-Kravis, Elizabeth
United States, Chicago
Rush University Medical Center
Medne, Līvija
United States, Philadelphia
The Children's Hospital of Philadelphia
Alkhateeb, Asem
Jordan, Irbid
Jordan University of Science and Technology
Grix, Art
United States
Permanente Medical Group
Wirrell, Elaine C.
United States, Rochester
Mayo Clinic
Powell, Berkley R.
United States, Madera
Children's Hospital Central California
Nickels, Katherine C.
United States, Rochester
Mayo Clinic
Burton, Barbara
United States, Chicago
Northwestern University Feinberg School of Medicine
Paras, Andrea
United States, Chicago
Northwestern University Feinberg School of Medicine
Kim, Katherine
United States, Chicago
Northwestern University Feinberg School of Medicine
Chung, Wendy K.
United States, New York
Columbia University
Dobyns, William B.
United States, Seattle
University of Washington
Das, Soma
United States, Chicago
The University of Chicago
Statistics
Citations: 49
Authors: 16
Affiliations: 12
Identifiers
Doi:
10.1016/j.pediatrneurol.2012.12.030
ISSN:
08878994
Research Areas
Genetics And Genomics
Study Design
Cohort Study
Participants Gender
Male
Female