Titre:
  • Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.
Auteur:D'Agostino, D; Bertelli, Matteo; Gallo, S; Cecchin, Stefano; Albiero, E; Garofalo, Pier Gaetano; Gambardella, A; St Hilaire, J-M; Kwiecinski, H; Andermann, Eva; Pandolfo, Massimo
Informations sur la publication:Neurology, 63, 8, page (1500-1502)
Statut de publication:Publié, 2004-10
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adult
Age of Onset
Alternative Splicing -- genetics
Brain -- metabolism
Brain -- physiopathology
Child
Chloride Channels -- biosynthesis
Chloride Channels -- genetics
DNA Mutational Analysis
Electroencephalography
Epilepsy -- congenital
Epilepsy -- genetics
Epilepsy -- physiopathology
Ethnic Groups -- genetics
Female
Genetic Predisposition to Disease -- genetics
Genetic Testing
Humans
Male
Middle Aged
Mutation -- genetics
Neural Inhibition -- genetics
Pedigree
Polymorphism, Genetic -- genetics
RNA, Messenger -- genetics
RNA, Messenger -- metabolism
Receptors, GABA -- genetics
Receptors, GABA -- metabolism
Seizures -- genetics
Synaptic Transmission -- genetics
Note générale:Journal Article
Research Support, Non-U.S. Gov't
Langue:Anglais
Identificateurs:urn:issn:0028-3878
info:pii/63/8/1500
info:pmid/15505175