A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

The hereditary spastic paraplegias (HSPs) are heterogeneous neurodegenerative disorders with over 50 known causative genes. We identified a recurrent mutation in KCNA2 (c.881G>A, p.R294H), encoding the voltage‐gated K(+)‐channel, K(V)1.2, in two unrelated families with HSP, intellectual disabilit...

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Detalhes bibliográficos
Publicado no:Ann Neurol
Main Authors: Helbig, Katherine L., Hedrich, Ulrike B.S., Shinde, Deepali N., Krey, Ilona, Teichmann, Anne‐Christin, Hentschel, Julia, Schubert, Julian, Chamberlin, Adam C., Huether, Robert, Lu, Hsiao‐Mei, Alcaraz, Wendy A., Tang, Sha, Jungbluth, Chelsy, Dugan, Sarah L., Vainionpää, Leena, Karle, Kathrin N., Synofzik, Matthis, Schöls, Ludger, Schüle, Rebecca, Lehesjoki, Anna‐Elina, Helbig, Ingo, Lerche, Holger, Lemke, Johannes R.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5129488/
https://ncbi.nlm.nih.gov/pubmed/27543892
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24762
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