De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associated with epilepsy. We exome sequenced 202 individuals with sporadic PVNH to identify novel genetic risk loci. We first performed a trio-based analysis and identified 219 de novo variants. Although no...

Full description

Bibliographic Details
Main Authors: Erin L Heinzen, Adam C O'Neill, Xiaolin Zhu, Andrew S Allen, Melanie Bahlo, Jamel Chelly, Ming Hui Chen, William B Dobyns, Saskia Freytag, Renzo Guerrini, Richard J Leventer, Annapurna Poduri, Stephen P Robertson, Christopher A Walsh, Mengqi Zhang, Epi4K Consortium, Epilepsy Phenome/Genome Project
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-05-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1007281

Internet

https://doi.org/10.1371/journal.pgen.1007281

Similar Items