Tiziana Pisano, A James Barkovich, Richard J Leventer, Waney Squier, Ingrid E Scheffer, Elena Parrini, Susan Blaser, Carla Marini, Stephen Robertson, Gaetano Tortorella, Felix Rosenow, Pierre Thomas, George McGillivray, Eva Andermann, Frederick Andermann, Samuel F Berkovic, William B Dobyns, Renzo Guerrini
OBJECTIVE: To describe a homogeneous subtype of periventricular nodular heterotopia (PNH) as part of a newly defined malformation complex. METHODS: Observational study including review of brain MRI and clinical findings of a cohort of 50 patients with PNH in the temporo-occipital horns and trigones, mutation analysis of the FLNA gene, and anatomopathologic study of a fetal brain. RESULTS: There were 28 females and 22 males. All were sporadic with the exception of an affected mother and son...
September 18, 2012: Neurology