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De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.
Li, Xia; Poschmann, Sibylle; Chen, Qiuyun; Fazeli, Walid; Oundjian, Nelly Jouayed; Snoeijen-Schouwenaars, Francesca M; Fricke, Oliver; Kamsteeg, Erik-Jan; Willemsen, Marjolein; Wang, Qing Kenneth.
Afiliação
  • Li X; Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei Province, P. R. China.
  • Poschmann S; Children Hospital Dritter Orden, München, Germany.
  • Chen Q; Center for Cardiovascular Genetics, Department of Molecular Cardiology, Lerner Research Institute, Department of Cardiovascular Medicine, Cleveland Clinic, OH, USA.
  • Fazeli W; Department of Genetics and Genome Science, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
  • Oundjian NJ; University Children's Hospital Cologne, Pediatric Neurology, Cologne, Germany.
  • Snoeijen-Schouwenaars FM; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
  • Fricke O; Academic Department of Residential Care, Centre for Epileptology Kempenhaeghe, Heeze, The Netherlands.
  • Kamsteeg EJ; Department of Child and Adolescent Psychiatry and Neuropediatrics, Gemeinschaftskrankenhaus Herdecke, Witten/Herdecke, Germany.
  • Willemsen M; Department of Human Genetics, Radboud University Medical Center, HB Nijmegen, The Netherlands.
  • Wang QK; Department of Human Genetics, Radboud University Medical Center, HB Nijmegen, The Netherlands. marjolein.willemsen@radboudumc.nl.
Eur J Hum Genet ; 26(2): 220-229, 2018 02.
Article em En | MEDLINE | ID: mdl-29330545
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ativação do Canal Iônico / Epilepsia / Subunidades alfa do Canal de Potássio Ativado por Cálcio de Condutância Alta / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ativação do Canal Iônico / Epilepsia / Subunidades alfa do Canal de Potássio Ativado por Cálcio de Condutância Alta / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Ano de publicação: 2018 Tipo de documento: Article