@article{c19e509e21ea45d187deace3507cc6fe,
title = "A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor",
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.",
keywords = "6q22.1 deletion, DBS, Deep brain stimulation, Generalized epilepsy, Myoclonic tremor, NUS1",
author = "Kazuhiro Haginoya and Futoshi Sekiguchi and Mitsutoshi Munakata and Hiroyuki Yokoyama and Naomi Hino-Fukuyo and Mitsugu Uematsu and Kazutaka Jin and Kenichi Nagamatsu and Tadashi Ando and Noriko Miyake and Naomichi Matsumoto and Shigeo Kure",
note = "Funding Information: We thank the individual and the individual{\textquoteright}s family for their participation in this study. This work was supported by Japan Agency for Medical Research and Development (AMED) under grant numbers JP19ek0109280 , JP19dm0107090 , JP19ek0109301 , JP19ek0109348 , and JP19kk0205012 ; by JSPS KAKENHI under grant numbers JP17H01539 , JP19H03621 and 17K15630 ; the Ministry of Health, Labor, and Welfare; and Takeda Science Foundation . Publisher Copyright: {\textcopyright} 2020 The Author(s)",
year = "2021",
month = jan,
doi = "10.1016/j.ebr.2020.100405",
language = "English",
volume = "15",
journal = "Epilepsy and Behavior Reports",
issn = "2213-3232",
publisher = "Elsevier Inc.",
}