Mutations in NHLRC1 cause progressive myoclonus epilepsy.

Chan, Elayne M; Young, Edwin J; Ianzano, Leonarda; Munteanu, Iulia; Zhao, Xiaochu; Christopoulos, Constantine C; Avanzini, Giuliano; Elia, Maurizio; Ackerley, Cameron A; Jovic, Nebojsa J; Bohlega, Saeed; Andermann, Eva; Rouleau, Guy A; Delgado-Escueta, Antonio V; Minassian, Berge A; Scherer, Stephen W

Chan, Elayne M; Young, Edwin J; Ianzano, Leonarda; Munteanu, Iulia; Zhao, Xiaochu; Christopoulos, Constantine C; Avanzini, Giuliano; Elia, Maurizio; Ackerley, Cameron A; Jovic, Nebojsa J; Bohlega, Saeed; Andermann, Eva; Rouleau, Guy A; Delgado-Escueta, Antonio V; Minassian, Berge A; Scherer, Stephen W.

Affiliation

Chan EM; Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

Nat Genet ; 35(2): 125-7, 2003 Oct.

Article in En | MEDLINE | ID: mdl-12958597

Subject(s)

Carrier Proteins/genetics; Mutation; Myoclonic Epilepsies, Progressive/genetics; Protein Tyrosine Phosphatases/genetics; Base Sequence; Cohort Studies; Female; Homozygote; Humans; Lafora Disease/genetics; Male; Molecular Sequence Data; Myoclonic Epilepsies, Progressive/enzymology; Pedigree; Protein Tyrosine Phosphatases, Non-Receptor; Sequence Deletion; Ubiquitin-Protein Ligases

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Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Protein Tyrosine Phosphatases / Myoclonic Epilepsies, Progressive / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2003 Type: Article Affiliation country: Canada

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