Blackwell Publishing, Inc. C © 2006 International League Against Epilepsy Mutation in Filamin A Causes Periventricular Heterotopia, Developmental Regression, and West Syndrome in Males

represents a disorder of neuronal migration resulting in multi-ple gray-matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant pattern. Heterozy-gotic female patients usually remain asymptomatic until the sec-ond or third decade of life, when they may have predominantly focal seizures, whereas hemizygotic male fetuses typically die in utero. Recent studies have also reported mutations in FLNA in male patients with PH who are cognitively normal. We de-scribe PH in three male siblings with PH due to FLNA, severe developmental regression, and West syndrome. Methods: The study includes the three affected brothers and their parents. Video-EEG recordings and magnetic resonance image (MRI) scanning were performed on all individuals. Muta-tions for FLNA were detected by using polymerase chain reactio