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Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.

par 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
Référence Neurology, 63, 8, page (1500-1502)
Publication Publié, 2004-10

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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