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@ARTICLE{DAdamo:137744,
      author       = {D'Adamo, Maria C and Gallenmüller, Constanze and
                      Servettini, Ilenio and Hartl, Elisabeth and Tucker, Stephen
                      J and Arning, Larissa and Biskup, Saskia and Grottesi,
                      Alessandro and Guglielmi, Luca and Imbrici, Paola and
                      Bernasconi, Pia and Di Giovanni, Giuseppe and Franciolini,
                      Fabio and Catacuzzeno, Luigi and Pessia, Mauro and
                      Klopstock, Thomas},
      title        = {{N}ovel phenotype associated with a mutation in the
                      {KCNA}1({K}v1.1) gene.},
      journal      = {Frontiers in physiology},
      volume       = {5},
      issn         = {1664-042X},
      address      = {Lausanne},
      publisher    = {Frontiers Research Foundation},
      reportid     = {DZNE-2020-04066},
      pages        = {525},
      year         = {2014},
      abstract     = {Episodic ataxia type 1 (EA1) is an autosomal dominant K(+)
                      channelopathy which manifests with short attacks of
                      cerebellar ataxia and dysarthria, and may also show
                      interictal myokymia. Episodes can be triggered by emotional
                      or physical stress, startle response, sudden postural change
                      or fever. Here we describe a 31-year-old man displaying
                      markedly atypical symptoms, including long-lasting attacks
                      of jerking muscle contractions associated with hyperthermia,
                      severe migraine, and a relatively short-sleep phenotype. A
                      single nucleotide change in KCNA1 (c.555C>G) was identified
                      that changes a highly conserved residue (p.C185W) in the
                      first transmembrane segment of the voltage-gated K(+)
                      channel Kv1.1. The patient is heterozygous and the mutation
                      was inherited from his asymptomatic mother. Next generation
                      sequencing revealed no variations in the CACNA1A, CACNB4,
                      KCNC3, KCNJ10, PRRT2 or SCN8A genes of either the patient or
                      mother, except for a benign variant in SLC1A3. Functional
                      analysis of the p.C185W mutation in KCNA1 demonstrated a
                      deleterious dominant-negative phenotype where the remaining
                      current displayed slower activation kinetics, subtle changes
                      in voltage-dependence and faster recovery from slow
                      inactivation. Structural modeling also predicts the C185W
                      mutation to be functionally deleterious. This description of
                      novel clinical features, associated with a Kv1.1 mutation
                      highlights a possibly unrecognized relationship between K(+)
                      channel dysfunction, hyperthermia and migraine in EA1, and
                      suggests that thorough assessments for these symptoms should
                      be carefully considered for all patients affected by EA1.},
      cin          = {Ext LMU Klinik / Clinical Dementia Research München},
      ddc          = {610},
      cid          = {I:(DE-2719)5000049 / I:(DE-2719)1111016},
      pnm          = {344 - Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:25642194},
      pmc          = {pmc:PMC4295438},
      doi          = {10.3389/fphys.2014.00525},
      url          = {https://pub.dzne.de/record/137744},
}