Art

J-GLOBAL ID：201302296531040644   Reference number：13A0875191

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

てんかん:DEPDC5の変異は多様な焦点を示す家族性焦点性てんかんを引き起こす

Author (39)： DIBBENS Leanne M (Univ. South Australia, South Australia, AUS) ,  HERON Sarah E (Univ. South Australia, South Australia, AUS) ,  HODGSON Bree L (Univ. South Australia, South Australia, AUS) ,  IONA Xenia (Univ. South Australia, South Australia, AUS) ,  DE VRIES Boukje (Leiden Univ. Medical Centre, Leiden, NLD) ,  WELLER Claudia M (Leiden Univ. Medical Centre, Leiden, NLD) ,  VAN DEN MAAGDENBERG Arn M J M (Leiden Univ. Medical Centre, Leiden, NLD) ,  DONATELLO Simona (Univ. Libre de Bruxelles, Brussels, BEL) ,  CHINTAWAR Satyan (Univ. Libre de Bruxelles, Brussels, BEL) ,  PANDOLFO Massimo (Univ. Libre de Bruxelles, Brussels, BEL) ,  CROMPTON Douglas E (Northern Health, Victoria, AUS) ,  CROMPTON Douglas E (Univ. Melbourne, Victoria, AUS) ,  BELLOWS Susannah T (Univ. Melbourne, Victoria, AUS) ,  KLEIN Karl Martin (Univ. Melbourne, Victoria, AUS) ,  REGAN Brigid M (Univ. Melbourne, Victoria, AUS) ,  BERKOVIC Samuel F (Univ. Melbourne, Victoria, AUS) ,  SCHEFFER Ingrid E (Univ. Melbourne, Victoria, AUS) ,  HUGHES James N (Univ. Adelaide, South Australia, AUS) ,  MULLEY John C (Univ. Adelaide, South Australia, AUS) ,  THOMAS Paul Q (Univ. Adelaide, South Australia, AUS) ,  GECZ Jozef (Univ. Adelaide, South Australia, AUS) ,  KLEIN Karl Martin (Philipps-Univ. Marburg, Marburg, DEU) ,  CALLENBACH Petra M C (Univ. Groningen, Groningen, NLD) ,  BROUWER Oebele F (Univ. Groningen, Groningen, NLD) ,  CORBETT Mark A (SA Pathology at Women’s and Children’s Hospital, South Australia, AUS) ,  GARDNER Alison E (SA Pathology at Women’s and Children’s Hospital, South Australia, AUS) ,  KIVITY Sara (Schneider Children’s Medical Center of Israel, Petach Tikvah, ISR) ,  CRIMMINS Denis (Central Coast Area Health Authority, New South Wales, AUS) ,  O'BRIEN Terence J (Univ. Melbourne, Victoria, AUS) ,  GUERRERO-LOPEZ Rosa (Centro De Investigacion Biomedica En Red De Enfermedades Raras (CIBERER), Madrid, ESP) ,  SERRATOSA Jse (Centro De Investigacion Biomedica En Red De Enfermedades Raras (CIBERER), Madrid, ESP) ,  MULLEY John C (SA Pathology at Women’s and Children’s Hospital, South Australia, AUS) ,  DUBEAU Francois (McGill Univ., Quebec, CAN) ,  ANDERMANN Frederick (McGill Univ., Quebec, CAN) ,  ANDERMANN Eva (McGill Univ., Quebec, CAN) ,  LICCHETTA Laura (Univ. Bologna, Bologna, ITA) ,  BISULLI Francesca (Univ. Bologna, Bologna, ITA) ,  COSSETTE Patrick (Univ. Montreal, Quebec, CAN) ,  SCHEFFER Ingrid E (Florey Neuroscience Inst., Victoria, AUS)
Material： Nature Genetics  (Nat Genet)
Volume： 45  Issue： 5  Page： 546-551  Publication year： May. 2013 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *gene ,  *epilepsy ,  hereditary disease ,  autosome ,  dominance ,  human(primates) ,  pedigree ,  genome ,  nucleotide sequence ,  mutation
Semi thesaurus term： *DEPDC5遺伝子 ,  Exome ,  Familial epilepsy ,  *focal epilepsy

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (5)： てんかん ,  変異 ,  焦点 ,  家族 ,  焦点性てんかん