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Journal of Pediatric Epilepsy 2012; 01(03): 179-184
DOI: 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 Affiliations
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Further Information

Publication History

01 December 2012

29 March 2012

Publication Date:
17 July 2015 (online)

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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