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@ARTICLE{Park:140830,
      author       = {Park, Joohyun and Koko, Mahmoud and Hedrich, Ulrike B S and
                      Hermann, Andreas and Cremer, Kirsten and Haberlandt, Edda
                      and Grimmel, Mona and Alhaddad, Bader and Beck-Woedl,
                      Stefanie and Harrer, Merle and Karall, Daniela and
                      Kingelhoefer, Lisa and Tzschach, Andreas and Matthies, Lars
                      C and Strom, Tim M and Ringelstein, Erich Bernd and Sturm,
                      Marc and Engels, Hartmut and Wolff, Markus and Lerche,
                      Holger and Haack, Tobias B},
      title        = {{KCNC}1-related disorders: new de novo variants expand the
                      phenotypic spectrum.},
      journal      = {Annals of Clinical and Translational Neurology},
      volume       = {6},
      number       = {7},
      issn         = {2328-9503},
      address      = {Chichester [u.a.]},
      publisher    = {Wiley},
      reportid     = {DZNE-2020-07152},
      pages        = {1319-1326},
      year         = {2019},
      abstract     = {A recurrent de novo missense variant in KCNC1, encoding a
                      voltage-gated potassium channel expressed in inhibitory
                      neurons, causes progressive myoclonus epilepsy and ataxia,
                      and a nonsense variant is associated with intellectual
                      disability. We identified three new de novo missense
                      variants in KCNC1 in five unrelated individuals causing
                      different phenotypes featuring either isolated
                      nonprogressive myoclonus (p.Cys208Tyr), intellectual
                      disability (p.Thr399Met), or epilepsy with myoclonic,
                      absence and generalized tonic-clonic seizures, ataxia, and
                      developmental delay (p.Ala421Val, three patients).
                      Functional analyses demonstrated no measurable currents for
                      all identified variants and dominant-negative effects for
                      p.Thr399Met and p.Ala421Val predicting neuronal
                      disinhibition as the underlying disease mechanism.},
      keywords     = {Animals / Ataxia: genetics / Child / Codon, Nonsense /
                      Genetic Association Studies / Humans / Intellectual
                      Disability: genetics / Male / Mutation, Missense / Myoclonic
                      Epilepsies, Progressive / Seizures: genetics / Shaw
                      Potassium Channels: genetics / Shaw Potassium Channels:
                      physiology / Xenopus laevis},
      cin          = {AG Teipel / Dresden common},
      ddc          = {610},
      cid          = {I:(DE-2719)1510100 / I:(DE-2719)6000013},
      pnm          = {344 - Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31353862},
      pmc          = {pmc:PMC6649617},
      doi          = {10.1002/acn3.50799},
      url          = {https://pub.dzne.de/record/140830},
}