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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5129488/
https://www.ncbi.nlm.nih.gov/pubmed/27543892
http://dx.doi.org/10.1002/ana.24762

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