Article
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
Epilepsia - 1 Jul 2011
Specchio Nicola, Marini Carla, Terracciano Alessandra, Mei Davide, Trivisano Marina, Sicca Federico, Fusco Lucia, Cusmai Raffaella, Darra Francesca, Bernardina Bernardo Dalla, Bertini Enrico, Guerrini Renzo, Vigevano Federico
Abstract excerpt
PURPOSE: To describe clinical and neuropsychological features of six consecutive sporadic girls with protocadherin 19 (PCDH19) mutations. METHODS: Following recent descriptions of PCDH19 mutation in girls with epilepsy, we sequenced this gene in patients with infantile or early childhood seizures onset, either focal or generalized, without an obvious etiology. KEY FINDINGS: Mean age at the time of the study was...
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