NovelKCNQ2andKCNQ3Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A-Reference-Cited by-同舟云学术

NovelKCNQ2andKCNQ3Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

Published:2014-01-13 Issue:3 Volume:35 Page:356-367
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Soldovieri Maria Virginia¹,Boutry-Kryza Nadia²³⁴,Milh Mathieu⁵⁶,Doummar Diane⁷,Heron Benedicte⁷,Bourel Emilie⁸,Ambrosino Paolo¹,Miceli Francesco⁹,De Maria Michela¹,Dorison Nathalie⁷,Auvin Stephane¹⁰¹¹,Echenne Bernard¹²,Oertel Julie¹³,Riquet Audrey¹⁴,Lambert Laetitia¹⁵¹⁶,Gerard Marion¹⁷,Roubergue Anne⁷,Calender Alain²³,Mignot Cyril¹⁸¹⁹,Taglialatela Maurizio¹⁹²⁰,Lesca Gaetan²³⁴

Affiliation:

1. Department of Medicine and Health Science; University of Molise; Campobasso Italy

2. Department of Medical Genetics; Hospices Civils de Lyon; France

3. Claude Bernard Lyon I University; Lyon France

4. CRNL, CNRS UMR 5292, INSERM U1028; Lyon France

5. INSERM, UMR_S910; Marseille France

6. Department of Neuropediatrics; CHU Timone, APHM; Marseille France

7. Department of Neuropediatrics; Armand Trousseau Hospital; APHP Paris France

8. Department of Neuropediatrics; Hôpital Nord, CHU d'Amiens; Amiens France

9. Department of Neuroscience; University of Naples Federico II; Naples Italy

10. Department of Neuropediatrics; Robert Debré Hospital; APHP Paris France

11. INSERM U676; Paris France

12. Department of Neuropediatrics; Gui de Chauliac Hospital, CHU de Montpellier; Montpellier France

13. Department of Medical Genetics; Hopital de l'Archet 2, CHU de Nice; Nice France

14. Department of Neuropediatrics; Roger Salengro Hospital; Lille France

15. Department of Medical Genetics; Maternité de Nancy and CHU de Nancy; Nancy France

16. INSERM UMR954, Vandoeuvre-les-Nancy; France

17. Department of Medical Genetics; CHU de Caen; Caen France

18. Department of Genetics; Clinical Genetics Unit, Hôpital de la Pitié-Salpêtrière; APHP Paris France

19. Centre de Référence des Déficiences Intellectuelles de Causes Rares; APHP Paris France

20. Unidad de Biofísica; Consejo Superior de Investigaciones Cientificas - Universidad del Pais Vasco; Leioa Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference58 articles.

1. Ca2+/calmodulin disrupts AKAP79/150 interactions with KCNQ (M-Type) K+ channels;Bal;J Neurosci,2010

2. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009;Berg;Epilepsia,2010

3. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy;Berkovic;Ann Neurol,2004

4. A potassium channel mutation in neonatal human epilepsy;Biervert;Science,1998

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