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.
Protocadherin 19 mutations in girls with infantile-onset epilepsy / Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini R.. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 75 (7):(2010), pp. 646-653. [10.1212/WNL.0b013e3181ed9e67]
Protocadherin 19 mutations in girls with infantile-onset epilepsy
Marini C;GUERRINI, RENZO
2010
Abstract
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.
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