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Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
Dahimene, Shehrazade; von Elsner, Leonie; Holling, Tess; Mattas, Lauren S; Pickard, Jess; Lessel, Davor; Pilch, Kjara S; Kadurin, Ivan; Pratt, Wendy S; Zhulin, Igor B; Dai, Hongzheng; Hempel, Maja; Ruzhnikov, Maura R Z; Kutsche, Kerstin; Dolphin, Annette C.
Afiliação
  • Dahimene S; Department of Neuroscience Physiology and Pharmacology, University College London (UCL), London WC1E 6BT, UK.
  • von Elsner L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Mattas LS; Neurology and Neurological Sciences, Pediatrics, Division of Medical Genetics, Stanford University and Lucile Packard Children's Hospital, Palo Alto, CA 94304, USA.
  • Pickard J; Department of Neuroscience Physiology and Pharmacology, University College London (UCL), London WC1E 6BT, UK.
  • Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Pilch KS; Department of Neuroscience Physiology and Pharmacology, University College London (UCL), London WC1E 6BT, UK.
  • Kadurin I; Department of Neuroscience Physiology and Pharmacology, University College London (UCL), London WC1E 6BT, UK.
  • Pratt WS; Department of Neuroscience Physiology and Pharmacology, University College London (UCL), London WC1E 6BT, UK.
  • Zhulin IB; Department of Microbiology and Translational Data Analytics Institute, The Ohio State University, Columbus, OH, 43210, USA.
  • Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine/NGS-Molecular, Baylor Genetics, Houston, TX, USA.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Ruzhnikov MRZ; Neurology and Neurological Sciences, Pediatrics, Division of Medical Genetics, Stanford University and Lucile Packard Children's Hospital, Palo Alto, CA 94304, USA.
  • Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Dolphin AC; Department of Neuroscience Physiology and Pharmacology, University College London (UCL), London WC1E 6BT, UK.
Brain ; 145(8): 2721-2729, 2022 08 27.
Article em En | MEDLINE | ID: mdl-35293990
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Canais de Cálcio Tipo N / Epilepsia Limite: Animals / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Canais de Cálcio Tipo N / Epilepsia Limite: Animals / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article