Affiliations: Department of Neurology, University of California, San Francisco, CA, USA | Department of Pediatrics, University of California, San Francisco, CA, USA
Note:  Corresponding author: Nilika S. Singhal, Department of Neurology, University of California, San Francisco, 350 Parnassus Ave., Suite 609, San Francisco, CA 94143-0137, USA. Tel.: +1 415 353 3820; Fax: +1 415 353 2400; E-mail: [email protected]
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: PCDH19, epilepsy in females linked to mental retardation