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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella, Elena; Becker, Felicitas; Møller, Rikke S; Schubert, Julian; Lemke, Johannes R; Larsen, Line H G; Eiberg, Hans; Nothnagel, Michael; Thiele, Holger; Altmüller, Janine; Syrbe, Steffen; Merkenschlager, Andreas; Bast, Thomas; Steinhoff, Bernhard; Nürnberg, Peter; Mang, Yuan; Bakke Møller, Louise; Gellert, Pia; Heron, Sarah E; Dibbens, Leanne M; Weckhuysen, Sarah; Dahl, Hans Atli; Biskup, Saskia; Tommerup, Niels; Hjalgrim, Helle; Lerche, Holger; Beniczky, Sándor; Weber, Yvonne G.
Affiliation
  • Gardella E; Danish Epilepsy Center-Filadelfia, Dianalund, Denmark.
  • Becker F; Institute of Regional Health Research, University of South Denmark, Odense, Denmark.
  • Møller RS; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Schubert J; Danish Epilepsy Center-Filadelfia, Dianalund, Denmark.
  • Lemke JR; Institute of Regional Health Research, University of South Denmark, Odense, Denmark.
  • Larsen LH; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Eiberg H; Institute of Human Genetics, University Hospitals, University of Leipzig, Leipzig, Germany.
  • Nothnagel M; Amplexa Genetics, Odense, Denmark.
  • Thiele H; RC-LINK, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Syrbe S; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Merkenschlager A; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Bast T; Department of Woman and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.
  • Steinhoff B; Department of Woman and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.
  • Nürnberg P; Epilepsy Center Kork, Kork, Germany.
  • Mang Y; Epilepsy Center Kork, Kork, Germany.
  • Bakke Møller L; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Gellert P; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Heron SE; Danish Epilepsy Center-Filadelfia, Dianalund, Denmark.
  • Dibbens LM; Danish Epilepsy Center-Filadelfia, Dianalund, Denmark.
  • Weckhuysen S; Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Dahl HA; Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, Australia.
  • Biskup S; Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Tommerup N; Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, Australia.
  • Hjalgrim H; Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • Lerche H; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Beniczky S; Amplexa Genetics, Odense, Denmark.
  • Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Ann Neurol ; 79(3): 428-36, 2016 Mar.
Article in En | MEDLINE | ID: mdl-26677014
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chorea / Genetic Predisposition to Disease / Epilepsy, Benign Neonatal / Polymorphism, Single Nucleotide / NAV1.6 Voltage-Gated Sodium Channel Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Ann Neurol Year: 2016 Type: Article Affiliation country: Denmark
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chorea / Genetic Predisposition to Disease / Epilepsy, Benign Neonatal / Polymorphism, Single Nucleotide / NAV1.6 Voltage-Gated Sodium Channel Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Ann Neurol Year: 2016 Type: Article Affiliation country: Denmark