PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

OBJECTIVE: Whole genome sequencing and the screening of 103 families recently led us to identify PRRT2 (proline-rich-transmembrane protein) as the gene causing infantile convulsions (IC) with paroxysmal kinesigenic dyskinesia (PKD) (PKD/IC syndrome, formerly ICCA). There is interfamilial and intrafa...

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Autors principals: Cloarec, Robin, Bruneau, Nadine, Rudolf, Gabrielle, Massacrier, Annick, Salmi, Manal, Bataillard, Marc, Boulay, Clotilde, Caraballo, Roberto, Fejerman, Natalio, Genton, Pierre, Hirsch, Edouard, Hunter, Alasdair, Lesca, Gaetan, Motte, Jacques, Roubertie, Agathe, Sanlaville, Damien, Wong, Sau-Wei, Fu, Ying-Hui, Rochette, Jacques, Ptáček, Louis J., Szepetowski, Pierre
Format: Artigo
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2012
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3511924/
https://ncbi.nlm.nih.gov/pubmed/23077017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182752c46
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