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A Novel KCNA1 Mutation in an Episodic Ataxia Type 1 Patient with Asterixis and Falls

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참고문헌 (6)

  1. Graves TD, "Episodic ataxia type 1 : clinical characterization, quality of life and genotype-phenotype correlation", Brain, 137(Pt 4), pp.1009~1018 (2014)
  2. D’Adamo MC, "Kv1. 1channelopathies : pathophysiological mechanisms and therapeutic approaches", Int J Mol Sci, 21, pp.2935~ (2020)
  3. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
  4. Paulhus K, "Clinical spectrum of KCNA1mutations : new insights into episodic ataxia and epilepsy comorbidity", Int J Mol Sci, 21, pp.2802~ (2020)
  5. Kipfer S, "The clinical spectrum of autosomal-dominant episodic ataxias", Mov Disord Clin Pract, 1, pp.285~290 (2014)
  6. Rogers A, "De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants", Am J Med Genet A, 176, pp.1748~1752 (2018)

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