Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
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A recurrent case of SCN4A related Paramyotonia congenita in two Korean brothers: a case report

  • Minsung Kang (Department of Neurology, Kyungpook National University Chilgok Hospital) ;
  • Sohyeon Kim (Department of Neurology, Dongsan Hospital, Keimyung University School of Medicine) ;
  • Hyungseok Hah (Department of Neurology, Kyungpook National University Chilgok Hospital) ;
  • Hung Youl Seok (Department of Neurology, Dongsan Hospital, Keimyung University School of Medicine) ;
  • Jin-Sung Park (Department of Neurology, Kyungpook National University Chilgok Hospital)
  • Received : 2023.07.12
  • Accepted : 2023.11.30
  • Published : 2024.04.30
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Abstract

Paramyotonia congenita (PMC) is characterized by nondystrophic myotonia aggravated by exercise and cold exposure. SCN4A mutations manifest as various phenotypes of channelopathy, including PMC, myotonia congenita, and periodic paralysis. SCN4A-related channelopathy is characterized by autosomal dominant inheritance. Parental gonadal mosaicism is suspected in cases of recurrent de novo mutation in an autosomal dominantly inherited disease. We report a case of two Korean brothers presenting with PMC due to same de novo SCN4A point mutation, probably due to parental gonadal mosaicism.

Keywords

Acknowledgement

This research was supported by KBRI basic research program through Korea Brain Research Institute funded by Ministry of Science and ICT (24-BR-03-02).

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