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

Epilepsy & Behavior Reports (Jan 2021)

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

Affiliations

Kazuhiro Haginoya: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan; Department of Pediatric Neurology, Miyagi Children’s Hospital, Sendai 989-3126, Japan; Corresponding author at: Department of Pediatric Neurology, Miyagi Children’s Hospital 4-3-17 Ochiai Aoba-ku, Sendai 989-3126, Japan.
Futoshi Sekiguchi: Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan
Mitsutoshi Munakata: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan
Hiroyuki Yokoyama: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan
Naomi Hino-Fukuyo: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan
Mitsugu Uematsu: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan
Kazutaka Jin: Department of Epileptology, Tohoku University Graduate School of Medicine, Sendai 980-8574, Japan
Kenichi Nagamatsu: Department of Neurosurgery, National Hospital Organization Miyagi Hospital, Yamamoto 989-2202, Japan
Tadashi Ando: Department of Neurosurgery, National Hospital Organization Miyagi Hospital, Yamamoto 989-2202, Japan
Noriko Miyake: Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan
Naomichi Matsumoto: Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan
Shigeo Kure: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan

Journal volume & issue: Vol. 15
p. 100405

Abstract

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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.

Published in Epilepsy & Behavior Reports

ISSN: 2589-9864 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry: Neurology. Diseases of the nervous system; Science: Physiology: Neurophysiology and neuropsychology
Website: https://www.journals.elsevier.com/epilepsy-and-behavior-reports

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