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...

Descripción completa

Detalles Bibliográficos
Autores principales: Heinzen, Erin L., O'Neill, Adam C., Zhu, Xiaolin, Allen, Andrew S., Bahlo, Melanie, Chelly, Jamel, Chen, Ming Hui, Dobyns, William B., Freytag, Saskia, Guerrini, Renzo, Leventer, Richard J., Poduri, Annapurna, Robertson, Stephen P., Walsh, Christopher A., Zhang, Mengqi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965900/
https://www.ncbi.nlm.nih.gov/pubmed/29738522
http://dx.doi.org/10.1371/journal.pgen.1007281

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965900/
https://www.ncbi.nlm.nih.gov/pubmed/29738522
http://dx.doi.org/10.1371/journal.pgen.1007281

Ejemplares similares