Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation

Author:

Gardella Elena12,Becker Felicitas3,Møller Rikke S.12,Schubert Julian3,Lemke Johannes R.4,Larsen Line H. G.5,Eiberg Hans6,Nothnagel Michael7,Thiele Holger7,Altmüller Janine7,Syrbe Steffen8,Merkenschlager Andreas8,Bast Thomas9,Steinhoff Bernhard9,Nürnberg Peter7,Mang Yuan10,Bakke Møller Louise1,Gellert Pia1,Heron Sarah E.1112,Dibbens Leanne M.1112,Weckhuysen Sarah1314,Dahl Hans Atli5,Biskup Saskia3,Tommerup Niels10,Hjalgrim Helle12,Lerche Holger3,Beniczky Sándor115,Weber Yvonne G.3

Affiliation:

1. Danish Epilepsy Center-Filadelfia; Dianalund Denmark

2. Institute of Regional Health Research; University of South Denmark; Odense Denmark

3. Department of Neurology and Epileptology; Hertie Institute for Clinical Brain Research, University of Tübingen; Tübingen Germany

4. Institute of Human Genetics; University Hospitals, University of Leipzig; Leipzig Germany

5. Amplexa Genetics; Odense Denmark

6. RC-LINK, Department of Cellular and Molecular Medicine; University of Copenhagen; Copenhagen Denmark

7. Cologne Center for Genomics; University of Cologne; Cologne Germany

8. Department of Woman and Child Health; Hospital for Children and Adolescents, University of Leipzig; Leipzig Germany

9. Epilepsy Center Kork; Kork Germany

10. Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine; University of Copenhagen; Copenhagen Denmark

11. Epilepsy Research Program, School of Pharmacy and Medical Sciences; University of South Australia; Adelaide South Australia Australia

12. Sansom Institute for Health Research; University of South Australia; Adelaide South Australia Australia

13. Neurogenetics Group, VIB Department of Molecular Genetics; University of Antwerp; Antwerp Belgium

14. Laboratory of Neurogenetics, Institute Born-Bunge; University of Antwerp; Antwerp Belgium

15. Department of Clinical Neurophysiology; Aarhus University; Aarhus Denmark

Funder

German Federal Ministry for Education and Research

European Science Foundation/German Research Foundation

German Research Foundation

University of Tübingen

German Society for Epileptology

No Epilep Foundation

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference45 articles.

1. Borderland of childhood epilepsy, with special references to febrile convulsions and so-called infantile convulsions;Fukuyama;Seishin Igaku,1963

2. Six months benign familial convulsions;Vigevano;Epilepsia,1990

3. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16;Szepetowski;Am J Hum Genet,1997

4. Multicenter study of paroxysmal dyskinesias in Japan-clinical and pedigree analysis;Nagamitsu;Mov Disord,1999

5. Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome;Mount;Arch Neurol Psychiatry,1940

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