BMC Neurology (May 2024)

Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report

  • Pedro Lucas G S B Lima,
  • Paulo R Nobrega,
  • Fernando Freua,
  • Pedro Braga-Neto,
  • Anderson R B Paiva,
  • Thiago Gonçalves Guimarães,
  • Fernando Kok

DOI
https://doi.org/10.1186/s12883-024-03625-z
Journal volume & issue
Vol. 24, no. 1
pp. 1 – 4

Abstract

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Abstract Background Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. Case report We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. Discussion Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.

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