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

研究成果: Article査読

抄録

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.

本文言語English
論文番号100405
ジャーナルEpilepsy and Behavior Reports
15
DOI
出版ステータスPublished - 2021 1

ASJC Scopus subject areas

  • 神経学
  • 臨床神経学
  • 行動神経科学

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