Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2-Reference-Cited by-同舟云学术

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

Published:2013 Issue:1 Volume:8 Page:80
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Milh Mathieu,Boutry-Kryza Nadia,Sutera-Sardo Julie,Mignot Cyril,Auvin Stéphane,Lacoste Caroline,Villeneuve Nathalie,Roubertie Agathe,Heron Bénédicte,Carneiro Maryline,Kaminska Anna,Altuzarra Cécilia,Blanchard Gaëlle,Ville Dorothée,Barthez Marie,Heron Delphine,Gras Domitille,Afenjar Alexandra,Dorison Nathalie,Doummar Dianne,Billette de Villemeur Thierry,An Isabelle,Jacquette Aurélia,Charles Perrine,Perrier Julie,Isidor Bertrand,Vercueil Laurent,Chabrol Brigitte,Badens Catherine,Lesca Gaétan,Villard Laurent

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Reference8 articles.

1. A Potassium Channel Mutation in Neonatal Human Epilepsy

2. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

3. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

4. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2

5. KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

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