Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.
Zianka Fallil, Heath Pardoe, Robert Bachman, Benjamin Cunningham, Isha Parulkar, Catherine Shain, Annapurna Poduri, Robert Knowlton, Ruben Kuzniecky, undefined EPGP Investigators
Epilepsy & Behavior | Published : 2015
PURPOSE: Periventricular nodular heterotopia (PVNH) is a malformation of cortical development due to impaired neuronal migration resulting in the formation of nodular masses of neurons and glial cells in close proximity to the ventricular walls. We report the clinical characteristics of the largest case series of FLNA-negative patients with seizures and bilateral periventricular heterotopia. METHODS: Participants were recruited through the Epilepsy Phenome/Genome Project (EPGP), a multicenter collaborative effort to collect detailed phenotypic data and DNA on a large number of individuals with epilepsy, including a cohort with symptomatic epilepsy related to PVNH. Included subjects had epile..View full abstract
Awarded by NINDS NIH HHS