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Article

Protocadherin 19 mutations in girls with infantile-onset epilepsy

16 Aug 2010

Abstract excerpt

OBJECTIVE: To explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy. METHODS: We studied a cohort of 117 female patients with febrile seizures (FS) and a wide spectrum of epilepsy phenotypes including focal and generalized forms with either sporadic or familial distribution. RESULTS: PCDH19 screening showed point mutations in 13 probands (11%). Mean age at seizure onset was 8.5 months;...

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PMID: 20713952
DOI: 10.1212/wnl.0b013e3181ed9e67

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