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

doi:10.1016/j.ebr.2020.100405

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

Epilepsy Behav Rep. 2020 Nov 16:15:100405. doi: 10.1016/j.ebr.2020.100405. eCollection 2021.

Authors

Affiliations

¹ Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
² Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
³ Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan.
⁴ Department of Epileptology, Tohoku University Graduate School of Medicine, Sendai 980-8574, Japan.
⁵ Department of Neurosurgery, National Hospital Organization Miyagi Hospital, Yamamoto 989-2202, Japan.

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.