Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy

Epilepsy & Behavior : E&B
Zianka FallilEPGP Investigators

Abstract

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. 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 epilepsy, and MRI confirmed bilateral PVNH. Magnetic resonance imaging studies were visually and quantitatively reviewed to investigate the topographic extent of PVNH, symmetry, and laterality. We analyzed data on 71 patients with bilateral PVNH. The incidence of febrile seizures was 16.6%. There was at least one other family member with epilepsy in 36.9% of this population. Developmental delay was present in 21.8%. Focal onset seizures were the most common type of seizure presentation (79.3%). High heterotopia burden was strongly associated with female gender and...Continue Reading

References

Oct 1, 1995·Brain : a Journal of Neurology·F DubeauF Andermann
Oct 23, 2002·Human Brain Mapping·Stephen M Smith
May 11, 2006·Brain : a Journal of Neurology·E ParriniR Guerrini
May 19, 2007·Human Molecular Genetics·Jie LuVolney Sheen
Aug 27, 2010·Epilepsia·François Le GalThomas Schmitt-Mechelke
Jul 3, 2013·Clinical Trials : Journal of the Society for Clinical Trials·Bassel Abou-KhalilMelodie Winawer

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Citations

May 9, 2018·PLoS Genetics·Erin L HeinzenUNKNOWN Epilepsy Phenome/Genome Project
Aug 15, 2017·Clinical Nuclear Medicine·Ferdinando F CalabriaAldo Quattrone
Nov 5, 2019·Frontiers in Cellular Neuroscience·Kalliopi MoustakiJean-Bernard Manent
Jun 8, 2021·Neurología : publicación oficial de la Sociedad Española de Neurología·M Angulo-MaldonadoA Ulloa-Piza

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