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Journal of Pediatric Epilepsy 2012; 01(03): 179-184
DOI: 10.3233/PEP-2012-028
DOI: 10.3233/PEP-2012-028
Review Article
PCDH19-related epilepsy
Subject Editor:
Further Information
Publication History
01 December 2012
29 March 2012
Publication Date:
17 July 2015 (online)

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.