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

Z Fallil; H Pardoe; R Bachman; B Cunningham; I Parulkar; C Shain; A Poduri; R Knowlton; R Kuzniecky; B Abou-Khalil; B Alldredge; E Andermann; J Bautista; S Berkovic; A Boro; G Cascino; D Consalvo; P Crumrine; O Devinsky; D Dlugos; M Epstein; M Fiol; N Fountain; J French; D Friedman; E Geller; T Glauser; S Glynn; S Haut; J Hayward; S Helmers; A Kanner; H Kirsch; E Kossoff; R Kuperman; D Lowenstein; S McGuire; P Motika; E Novotny; R Ottman; J Paolicchi; J Parent; K Park; N Risch; L Sadleir; I Scheffer; R Shellhaas; E Sherr; J Shih; S Shinnar; R Singh; J Sirven; M Smith; J Sullivan; LL Thio; A Venkatasubramanian; E Vining; G Von Allmen; J Weisenberg; P Widdess-Walsh; MR Winawer; E Acton; S Hagopian; S Sanchez

Journal article

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

Z Fallil, H Pardoe, R Bachman, B Cunningham, I Parulkar, C Shain, A Poduri, R Knowlton, R Kuzniecky, B Abou-Khalil, B Alldredge, E Andermann, J Bautista, S Berkovic, A Boro, G Cascino, D Consalvo, P Crumrine, O Devinsky, D Dlugos Show all

Epilepsy and Behavior | Published : 2015

DOI: 10.1016/j.yebeh.2015.07.041

Abstract

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..

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University of Melbourne Researchers

Heath Pardoe Author

Sam Berkovic Author

Ingrid Scheffer Author

Grants

Awarded by National Institute of Neurological Disorders and Stroke

Funding Acknowledgements

This study was supported by NINDS U01 NS 053998, as well as planning grants from the Finding a Cure for Epilepsy and Seizures (FACES) Foundation, the Andrew's Foundation and the Richard Thalheimer Philanthropic Fund. A.P. was supported by the NINDS (K23 NS069784).