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A Novel KCNA1 Variant Manifesting as Persistent Limb Myokymia Without Episodic Ataxia

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참고문헌 (7)

  1. 이금봉, "A Novel KCNA1 Mutation in an Episodic Ataxia Type 1 Patient with Asterixis and Falls", Journal of Clinical Neurology, 17(2), pp.333~335 (2021), 대한신경과학회
  2. 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)
  3. Paulhus K, "Clinical spectrum of KCNA1mutations : new insights into episodic ataxia and epilepsy comorbidity", Int J Mol Sci, 21, pp.2802~ (2020)
  4. Chen H, "Functional analysis of a novel potassium channel(KCNA1)mutation in hereditary myokymia", Neurogenetics, 8, pp.131~135 (2007)
  5. Eunson LH, "Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability", Ann Neurol, 48, pp.647~656 (2000)
  6. Tomlinson SE, "Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1", J Neurol Neurosurg Psychiatry, 84, pp.1107~1112 (2013)
  7. Na JH, "Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy", Brain Dev, 42, pp.438~448 (2020)

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