Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
About this item
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Author / Creator
Brain Somatic Mosaicism Network , Focal Cortical Dysplasia Neurogenetics Consortium , Chung, Changuk , Yang, Xiaoxu , Bae, Taejeong , Vong, Keng Ioi , Mittal, Swapnil , Donkels, Catharina , Westley Phillips, H. , Li, Zhen , Marsh, Ashley P. L. , Breuss, Martin W. , Ball, Laurel L. , Garcia, Camila Araújo Bernardino , George, Renee D. , Gu, Jing , Xu, Mingchu , Barrows, Chelsea , James, Kiely N. , Stanley, Valentina , Nidhiry, Anna S. , Khoury, Sami , Howe, Gabrielle , Riley, Emily , Xu, Xin , Copeland, Brett , Wang, Yifan , Kim, Se Hoon , Kang, Hoon-Chul , Schulze-Bonhage, Andreas , Haas, Carola A. , Urbach, Horst , Prinz, Marco , Limbrick, David D. , Gurnett, Christina A. , Smyth, Matthew D. , Sattar, Shifteh , Nespeca, Mark , Gonda, David D. , Imai, Katsumi , Takahashi, Yukitoshi , Chen, Hsin-Hung , Tsai, Jin-Wu , Conti, Valerio , Guerrini, Renzo , Devinsky, Orrin , Silva, Wilson A. , Machado, Helio R. , Mathern, Gary W. , Abyzov, Alexej , Baldassari, Sara , Baulac, Stéphanie and Gleeson, Joseph G.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Malformations of cortical development (MCD) are neurological conditions involving focal disruptions of cortical architecture and cellular organization that arise during embryogenesis, largely from somatic mosaic mutations, and cause intractable epilepsy. Identifying the genetic causes of MCD has been a challenge, as mutations remain at low allelic...
Alternative Titles
Full title
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Authors, Artists and Contributors
Author / Creator
Focal Cortical Dysplasia Neurogenetics Consortium
Chung, Changuk
Yang, Xiaoxu
Bae, Taejeong
Vong, Keng Ioi
Mittal, Swapnil
Donkels, Catharina
Westley Phillips, H.
Li, Zhen
Marsh, Ashley P. L.
Breuss, Martin W.
Ball, Laurel L.
Garcia, Camila Araújo Bernardino
George, Renee D.
Gu, Jing
Xu, Mingchu
Barrows, Chelsea
James, Kiely N.
Stanley, Valentina
Nidhiry, Anna S.
Khoury, Sami
Howe, Gabrielle
Riley, Emily
Xu, Xin
Copeland, Brett
Wang, Yifan
Kim, Se Hoon
Kang, Hoon-Chul
Schulze-Bonhage, Andreas
Haas, Carola A.
Urbach, Horst
Prinz, Marco
Limbrick, David D.
Gurnett, Christina A.
Smyth, Matthew D.
Sattar, Shifteh
Nespeca, Mark
Gonda, David D.
Imai, Katsumi
Takahashi, Yukitoshi
Chen, Hsin-Hung
Tsai, Jin-Wu
Conti, Valerio
Guerrini, Renzo
Devinsky, Orrin
Silva, Wilson A.
Machado, Helio R.
Mathern, Gary W.
Abyzov, Alexej
Baldassari, Sara
Baulac, Stéphanie
Gleeson, Joseph G.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9961399
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9961399
Other Identifiers
ISSN
1061-4036,1546-1718
E-ISSN
1546-1718
DOI
10.1038/s41588-022-01276-9
