A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor

Kazuhiro Haginoya, Futoshi Sekiguchi, Mitsutoshi Munakata, Hiroyuki Yokoyama, Naomi Hino-Fukuyo, Mitsugu Uematsu, Kazutaka Jin, Kenichi Nagamatsu, Tadashi Ando, Noriko Miyake, Naomichi Matsumoto, Shigeo Kure

Research output: Contribution to journalArticlepeer-review

Abstract

We report a patient with a 6q22.1 deletion, who presented with a rare syndrome of generalized epilepsy, myoclonic tremor, and intellectual disability. There was no clinical progression after follow-up for more than 10 years. Our report presents the genetic basis for a phenotype involving a non-progressive generalized epilepsy with tremor. The efficacy of valproic acid for seizure control and the partial efficacy of deep brain stimulation with propranolol for myoclonic tremor is detailed.

Original languageEnglish
Article number100405
JournalEpilepsy and Behavior Reports
Volume15
DOIs
Publication statusPublished - 2021 Jan

Keywords

  • 6q22.1 deletion
  • DBS
  • Deep brain stimulation
  • Generalized epilepsy
  • Myoclonic tremor
  • NUS1

ASJC Scopus subject areas

  • Clinical Neurology
  • Behavioral Neuroscience
  • Neurology

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