Your browser doesn't support javascript.
loading
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Ahring, Philip K; Liao, Vivian W Y; Gardella, Elena; Johannesen, Katrine M; Krey, Ilona; Selmer, Kaja K; Stadheim, Barbro F; Davis, Hannah; Peinhardt, Charlotte; Koko, Mahmoud; Coorg, Rohini K; Syrbe, Steffen; Bertsche, Astrid; Santiago-Sim, Teresa; Diemer, Tue; Fenger, Christina D; Platzer, Konrad; Eichler, Evan E; Lerche, Holger; Lemke, Johannes R; Chebib, Mary; Møller, Rikke S.
Afiliação
  • Ahring PK; Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Liao VWY; Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.
  • Johannesen KM; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • Krey I; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.
  • Selmer KK; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • Stadheim BF; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Davis H; National Centre for Rare Epilepsy-Related Disorders, Oslo University Hospital, Oslo, Norway.
  • Peinhardt C; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Koko M; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Coorg RK; Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
  • Syrbe S; Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
  • Bertsche A; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Santiago-Sim T; Department of Pediatrics and Neurology, Neurophysiology and Epilepsy, Baylor College of Medicine, Houston, TX, USA.
  • Diemer T; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Fenger CD; Neuropaediatrics, University Hospital for Children and Adolescents, Rostock, Germany.
  • Platzer K; Center for Pediatric Research, University Hospital for Children and Adolescents, Leipzig, Germany.
  • Eichler EE; GeneDx, Inc., Gaithersburg, MD 20877, USA.
  • Lerche H; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
  • Lemke JR; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.
  • Chebib M; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • Møller RS; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Brain ; 145(4): 1299-1309, 2022 05 24.
Article em En | MEDLINE | ID: mdl-34633442
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada / Epilepsia / Proteínas da Membrana Plasmática de Transporte de GABA / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies / Qualitative_research Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada / Epilepsia / Proteínas da Membrana Plasmática de Transporte de GABA / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies / Qualitative_research Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Austrália