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

@inproceedings{Helbig2016ARM,
  title={A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia},
  author={Katherine L Helbig and Ulrike B. S. Hedrich and Deepali N Shinde and Ilona Krey and A. Lina Teichmann and Julia Hentschel and Julian Schubert and Adam C. Chamberlin and Robert Huether and Hsiao‐Mei Lu and Wendy A. Alcaraz and Sha Tang and Chelsy R Jungbluth and Sarah L. Dugan and Leena K. Vainionp{\"a}{\"a} and Kathrin Nora Karle and Matthis Synofzik and Ludger Sch{\"o}ls and Rebecca Sch{\"u}le and Anna‐Elina Lehesjoki and Ingo Helbig and Holger Lerche and Johannes R Lemke},
  booktitle={Annals of neurology},
  year={2016}
}
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 p.R294H mutation in a proband with ataxia and ID. Two-electrode voltage-clamp… CONTINUE READING
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