De novo mutations in epileptic encephalopathies
De novo mutations in epileptic encephalopathies
About this item
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Author / Creator
Allen, Andrew S , Berkovic, Samuel F , Cossette, Patrick , Delanty, Norman , Dlugos, Dennis , Eichler, Evan E , Epstein, Michael P , Glauser, Tracy , Goldstein, David B , Han, Yujun , Heinzen, Erin L , Hitomi, Yuki , Howell, Katherine B , Johnson, Michael R , Kuzniecky, Ruben , Lowenstein, Daniel H , Lu, Yi-Fan , Madou, Maura R Z , Marson, Anthony G , Mefford, Heather C , Esmaeeli Nieh, Sahar , O'Brien, Terence J , Ottman, Ruth , Petrovski, Slavé , Poduri, Annapurna , Ruzzo, Elizabeth K , Scheffer, Ingrid E , Sherr, Elliott H , Yuskaitis, Christopher J , Abou-Khalil, Bassel , Alldredge, Brian K , Bautista, Jocelyn F , Boro, Alex , Cascino, Gregory D , Consalvo, Damian , Crumrine, Patricia , Devinsky, Orrin , Fiol, Miguel , Fountain, Nathan B , French, Jacqueline , Friedman, Daniel , Geller, Eric B , Glynn, Simon , Haut, Sheryl R , Hayward, Jean , Helmers, Sandra L , Joshi, Sucheta , Kanner, Andres , Kirsch, Heidi E , Knowlton, Robert C , Kossoff, Eric H , Kuperman, Rachel , McGuire, Shannon M , Motika, Paul V , Novotny, Edward J , Paolicchi, Juliann M , Parent, Jack M , Park, Kristen , Shellhaas, Renée A , Shih, Jerry J , Singh, Rani , Sirven, Joseph , Smith, Michael C , Sullivan, Joseph , Lin Thio, Liu , Venkat, Anu , Vining, Eileen P G , Von Allmen, Gretchen K , Weisenberg, Judith L , Widdess-Walsh, Peter , Winawer, Melodie R , Epi4K Consortium and Epilepsy Phenome/Genome Project
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Exome sequencing has found an excess of
de novo
mutations in the ∼4,000 most intolerant genes in patients with two classical epileptic encephalopathies (infantile spasms and Lennox–Gastaut syndrome); among them are multiple
de novo
mutations in
GABRB3
and
ALG13
.
Epilepsy-linked mutations revealed
An extensive exome se...
Alternative Titles
Full title
De novo mutations in epileptic encephalopathies
Authors, Artists and Contributors
Author / Creator
Berkovic, Samuel F
Cossette, Patrick
Delanty, Norman
Dlugos, Dennis
Eichler, Evan E
Epstein, Michael P
Glauser, Tracy
Goldstein, David B
Han, Yujun
Heinzen, Erin L
Hitomi, Yuki
Howell, Katherine B
Johnson, Michael R
Kuzniecky, Ruben
Lowenstein, Daniel H
Lu, Yi-Fan
Madou, Maura R Z
Marson, Anthony G
Mefford, Heather C
Esmaeeli Nieh, Sahar
O'Brien, Terence J
Ottman, Ruth
Petrovski, Slavé
Poduri, Annapurna
Ruzzo, Elizabeth K
Scheffer, Ingrid E
Sherr, Elliott H
Yuskaitis, Christopher J
Abou-Khalil, Bassel
Alldredge, Brian K
Bautista, Jocelyn F
Boro, Alex
Cascino, Gregory D
Consalvo, Damian
Crumrine, Patricia
Devinsky, Orrin
Fiol, Miguel
Fountain, Nathan B
French, Jacqueline
Friedman, Daniel
Geller, Eric B
Glynn, Simon
Haut, Sheryl R
Hayward, Jean
Helmers, Sandra L
Joshi, Sucheta
Kanner, Andres
Kirsch, Heidi E
Knowlton, Robert C
Kossoff, Eric H
Kuperman, Rachel
McGuire, Shannon M
Motika, Paul V
Novotny, Edward J
Paolicchi, Juliann M
Parent, Jack M
Park, Kristen
Shellhaas, Renée A
Shih, Jerry J
Singh, Rani
Sirven, Joseph
Smith, Michael C
Sullivan, Joseph
Lin Thio, Liu
Venkat, Anu
Vining, Eileen P G
Von Allmen, Gretchen K
Weisenberg, Judith L
Widdess-Walsh, Peter
Winawer, Melodie R
Epi4K Consortium
Epilepsy Phenome/Genome Project
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1432616838
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1432616838
Other Identifiers
ISSN
0028-0836
E-ISSN
1476-4687
DOI
10.1038/nature12439
