Article
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Annals of neurology - 1 Oct 2016
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
Abstract excerpt
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, KV 1.2, in two unrelated families with HSP, intellectual disability (ID), and ataxia. Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo...
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