De novo and inherited private variants in MAP1B in periventricular nodular heterotopia
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia
About this item
Full title
Author / Creator
Epi4K Consortium , Epilepsy Phenome/Genome Project , for the Epi4K Consortium , 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 and Zhang, Mengqi
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publication information
Publisher
United States: Public Library of Science
Subjects
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Scope and Contents
Contents
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 novel genes were implicated in this initial analy...
Alternative Titles
Full title
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia
Authors, Artists and Contributors
Author / Creator
Epilepsy Phenome/Genome Project
for the Epi4K Consortium
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_2049971093
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2049971093
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1007281
