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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Begemann, Anaïs; Acuña, Mario A; Zweier, Markus; Vincent, Marie; Steindl, Katharina; Bachmann-Gagescu, Ruxandra; Hackenberg, Annette; Abela, Lucia; Plecko, Barbara; Kroell-Seger, Judith; Baumer, Alessandra; Yamakawa, Kazuhiro; Inoue, Yushi; Asadollahi, Reza; Sticht, Heinrich; Zeilhofer, Hanns Ulrich; Rauch, Anita.
Affiliation
  • Begemann A; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Zurich, Switzerland.
  • Acuña MA; radiz-Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006, Zurich, Switzerland.
  • Zweier M; radiz-Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006, Zurich, Switzerland.
  • Vincent M; Institute of Pharmacology and Toxicology, University of Zurich, 8057, Zurich, Switzerland.
  • Steindl K; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Zurich, Switzerland.
  • Bachmann-Gagescu R; radiz-Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006, Zurich, Switzerland.
  • Hackenberg A; Service de génétique médicale, CHU Nantes, 44093, Nantes, France.
  • Abela L; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Zurich, Switzerland.
  • Plecko B; radiz-Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006, Zurich, Switzerland.
  • Kroell-Seger J; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Zurich, Switzerland.
  • Baumer A; Division of Child Neurology, University Children's Hospital Zurich, 8032, Zurich, Switzerland.
  • Yamakawa K; radiz-Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006, Zurich, Switzerland.
  • Inoue Y; Division of Child Neurology, University Children's Hospital Zurich, 8032, Zurich, Switzerland.
  • Asadollahi R; radiz-Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006, Zurich, Switzerland.
  • Sticht H; Division of Child Neurology, University Children's Hospital Zurich, 8032, Zurich, Switzerland.
  • Zeilhofer HU; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8036, Graz, Austria.
  • Rauch A; Children's department, Swiss Epilepsy Centre, Clinic Lengg, 8008, Zurich, Switzerland.
Mol Med ; 25(1): 6, 2019 02 27.
Article in En | MEDLINE | ID: mdl-30813884

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy, Benign Neonatal / NAV1.2 Voltage-Gated Sodium Channel / Epileptic Syndromes / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Humans Language: En Journal: Mol Med Journal subject: BIOLOGIA MOLECULAR Year: 2019 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy, Benign Neonatal / NAV1.2 Voltage-Gated Sodium Channel / Epileptic Syndromes / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Humans Language: En Journal: Mol Med Journal subject: BIOLOGIA MOLECULAR Year: 2019 Document type: Article Affiliation country: Country of publication: