Journal of Pediatric Epilepsy, Table of Contents Journal of Pediatric Epilepsy 2012; 01(03): 179-184DOI: 10.3233/PEP-2012-028 Review Article Georg Thieme Verlag KG Stuttgart – New York PCDH19-related epilepsy Nilika S. Singhal a Department of Neurology, University of California, San Francisco, CA, USA , Joseph E. Sullivan a Department of Neurology, University of California, San Francisco, CA, USA b Department of Pediatrics, University of California, San Francisco, CA, USA› Author AffiliationsSubject Editor: Recommend Article Abstract PDF Download Buy Article Abstract Mutations in the PCDH19 gene are an important cause of early-onset epilepsy in females along the spectrum of epilepsy in females linked to mental retardation. Patients often have cognitive impairment or behavioral disorders, but the severity of epilepsy and co-morbidities are quite variable. Genetic testing for this condition is crucial in order to provide the best medical management of seizures along with appropriate genetic counseling for the families of affected individuals. Keywords Keywords PCDH19 - epilepsy in females linked to mental retardation PDF (1638 kb)
