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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.
Affiliation
  • 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 de En | MEDLINE | ID: mdl-29330545
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Ouverture et fermeture des portes des canaux ioniques / Épilepsie / Sous-unités alpha des canaux potassiques calcium-dépendants de grande conductance / Mutation Type d'étude: Diagnostic_studies / Etiology_studies / Prognostic_studies Limites: Child / Child, preschool / Female / Humans / Male Langue: En Journal: Eur J Hum Genet Sujet du journal: GENETICA MEDICA Année: 2018 Type de document: Article Pays de publication: Royaume-Uni
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Ouverture et fermeture des portes des canaux ioniques / Épilepsie / Sous-unités alpha des canaux potassiques calcium-dépendants de grande conductance / Mutation Type d'étude: Diagnostic_studies / Etiology_studies / Prognostic_studies Limites: Child / Child, preschool / Female / Humans / Male Langue: En Journal: Eur J Hum Genet Sujet du journal: GENETICA MEDICA Année: 2018 Type de document: Article Pays de publication: Royaume-Uni