SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.

Bergareche, Alberto; Bednarz, Marcin; Sánchez, Elena; Krebs, Catharine E; Ruiz-Martinez, Javier; De La Riva, Patricia; Makarov, Vladimir; Gorostidi, Ana; Jurkat-Rott, Karin; Marti-Masso, Jose Felix; Paisán-Ruiz, Coro

Bergareche, Alberto; Bednarz, Marcin; Sánchez, Elena; Krebs, Catharine E; Ruiz-Martinez, Javier; De La Riva, Patricia; Makarov, Vladimir; Gorostidi, Ana; Jurkat-Rott, Karin; Marti-Masso, Jose Felix; Paisán-Ruiz, Coro.

Affiliation

Bergareche A; Movement Disorders Unit, Department of Neurology Hospital Universitario Donostia San Sebastián Guipuzcoa Spain, Biodonostia Research Institute, Area of Neurosciences, Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED), Carlos III Health Institute, Madrid, Spain.
Bednarz M; Division of Neurophysiology, Ulm University, Albert-Einstein-Allee 11, 89070 Ulm, Germany.
Sánchez E; Department of Neurology.
Krebs CE; Department of Neurology.
Ruiz-Martinez J; Movement Disorders Unit, Department of Neurology Hospital Universitario Donostia San Sebastián Guipuzcoa Spain, Biodonostia Research Institute, Area of Neurosciences, Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED), Carlos III Health Institute, Madrid, Spain.
De La Riva P; Movement Disorders Unit, Department of Neurology Hospital Universitario Donostia San Sebastián Guipuzcoa Spain, Biodonostia Research Institute, Area of Neurosciences, Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED), Carlos III Health Institute, Madrid, Spain.
Makarov V; Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, 1275 York Ave, New York, NY 10065, USA.
Gorostidi A; Movement Disorders Unit, Department of Neurology Hospital Universitario Donostia San Sebastián Guipuzcoa Spain, Biodonostia Research Institute, Area of Neurosciences, Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED), Carlos III Health Institute, Madrid, Spain.
Jurkat-Rott K; Division of Neurophysiology, Ulm University, Albert-Einstein-Allee 11, 89070 Ulm, Germany.
Marti-Masso JF; Movement Disorders Unit, Department of Neurology Hospital Universitario Donostia San Sebastián Guipuzcoa Spain, Biodonostia Research Institute, Area of Neurosciences, Department of Neurosciences University of the Basque Country, EHU-UPV San Sebastián Gipuzkoa Spain, Centro de Investigación Biomédica
Paisán-Ruiz C; Department of Neurology, Department of Psychiatry, Department of Genetics and Genomic Sciences, Friedman Brain Institute, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY 10029, USA and coro.paisan-ruiz@mssm.edu.

Hum Mol Genet ; 24(24): 7111-20, 2015 Dec 15.

Article de En | MEDLINE | ID: mdl-26427606

Sujet(s)

Texte intégral

Ajouter à My VHL

Imprimer

XML

PubMed Links

Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Génome humain / Tremblement essentiel / Épilepsie / Canal sodique voltage-dépendant NAV1.4 / Mutation Type d'étude: Prognostic_studies / Risk_factors_studies Limites: Aged / Aged80 / Animals / Female / Humans / Male / Middle aged Langue: En Journal: Hum Mol Genet Sujet du journal: BIOLOGIA MOLECULAR / GENETICA MEDICA Année: 2015 Type de document: Article Pays d'affiliation: Espagne Pays de publication: Royaume-Uni

Texte intégral

Ajouter à My VHL

Imprimer

XML

PubMed Links

Recherche sur Google