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Mutations in GRIN2A cause idiopathic focal...

Journal article

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Abstract

Sarah von Spiczak, Holger Lerche and colleagues identify mutations in GRIN2A that cause idiopathic focal epilepsy with rolandic spikes.

Authors

Lemke JR; Lal D; Reinthaler EM; Steiner I; Nothnagel M; Alber M; Geider K; Laube B; Schwake M; Finsterwalder K

Journal

Nature Genetics, Vol. 45, No. 9, pp. 1067–1072

Publisher

Springer Nature

Publication Date

September 1, 2013

DOI

10.1038/ng.2728

ISSN

1061-4036

Associated Experts

Gabriel Ronen

Professor Emeritus, Faculty of Health Sciences

Labels

Fields of Research (FoR)

30 Agricultural, Veterinary and Food Sciences 31 Biological Sciences 3102 Bioinformatics and computational biology 3105 Genetics 3001 Agricultural biotechnology

Medical Subject Headings (MeSH)

Amino Acid Substitution Epilepsies, Partial Female Humans Male Models, Molecular Mutation Mutation, Missense Pedigree Protein Conformation Receptors, N-Methyl-D-Aspartate

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