NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor

Kunihiko Araki; Ryoichi Nakamura; Daisuke Ito; Kohji Kato; Yohei Iguchi; Kentaro Sahashi; Miho Toyama; Kensuke Hamada; Nobuhiko Okamoto; Yoshinao Wada; Tomohiko Nakamura; Tomoo Ogi; Masahisa Katsuno

doi:10.1016/j.eplepsyres.2020.106371

NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor

Kunihiko Araki, Ryoichi Nakamura, Daisuke Ito, Kohji Kato, Yohei Iguchi, Kentaro Sahashi, Miho Toyama, Kensuke Hamada, Nobuhiko Okamoto, Yoshinao Wada, Tomohiko Nakamura, Tomoo Ogi, Masahisa Katsuno

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

Abstract

We report on familial 5 epilepsy patients with autosomal dominant inheritance of a novel heterozygous NUS1 frameshift mutation. All patients had cerebellar ataxia and tremor. Three patients were diagnosed with childhood absence epilepsy, 1 patient with generalized epilepsy, and 1 patient with parkinsonism without epilepsy. Our cases and previously reported cases with deletions of chromosome 6q22 that include NUS1 share these common symptoms. In a cellular experiment, NUS1 mutation led to a substantial reduction of the protein level of NUS1. NUS1 mutation could contribute to epilepsy pathogenesis and also constitute a distinct syndromic entity with cerebellar ataxia and tremor.

Original language	English
Article number	106371
Journal	Epilepsy Research
Volume	164
DOIs	https://doi.org/10.1016/j.eplepsyres.2020.106371
Publication status	Published - Aug 2020
Externally published	Yes

All Science Journal Classification (ASJC) codes

Neurology
Clinical Neurology

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10.1016/j.eplepsyres.2020.106371

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@article{424dd3b8a7b740f1a744a6eab3f0f0f1,

title = "NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor",

abstract = "We report on familial 5 epilepsy patients with autosomal dominant inheritance of a novel heterozygous NUS1 frameshift mutation. All patients had cerebellar ataxia and tremor. Three patients were diagnosed with childhood absence epilepsy, 1 patient with generalized epilepsy, and 1 patient with parkinsonism without epilepsy. Our cases and previously reported cases with deletions of chromosome 6q22 that include NUS1 share these common symptoms. In a cellular experiment, NUS1 mutation led to a substantial reduction of the protein level of NUS1. NUS1 mutation could contribute to epilepsy pathogenesis and also constitute a distinct syndromic entity with cerebellar ataxia and tremor.",

author = "Kunihiko Araki and Ryoichi Nakamura and Daisuke Ito and Kohji Kato and Yohei Iguchi and Kentaro Sahashi and Miho Toyama and Kensuke Hamada and Nobuhiko Okamoto and Yoshinao Wada and Tomohiko Nakamura and Tomoo Ogi and Masahisa Katsuno",

note = "Funding Information: This work was supported by a KAKENHI (Grant Number JP17H04195 ) and Special Coordination Funds for Rare and Intractable Diseases from Japan Agency for Medical Research and Development (AMED) ( JP19ek0109281 , JP19ek0109418 ). Publisher Copyright: {\textcopyright} 2020 Elsevier B.V.",

year = "2020",

month = aug,

doi = "10.1016/j.eplepsyres.2020.106371",

language = "English",

volume = "164",

journal = "Journal of Epilepsy",

issn = "0920-1211",

publisher = "Elsevier",

}

TY - JOUR

T1 - NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor

AU - Araki, Kunihiko

AU - Nakamura, Ryoichi

AU - Ito, Daisuke

AU - Kato, Kohji

AU - Iguchi, Yohei

AU - Sahashi, Kentaro

AU - Toyama, Miho

AU - Hamada, Kensuke

AU - Okamoto, Nobuhiko

AU - Wada, Yoshinao

AU - Nakamura, Tomohiko

AU - Ogi, Tomoo

AU - Katsuno, Masahisa

N1 - Funding Information: This work was supported by a KAKENHI (Grant Number JP17H04195 ) and Special Coordination Funds for Rare and Intractable Diseases from Japan Agency for Medical Research and Development (AMED) ( JP19ek0109281 , JP19ek0109418 ). Publisher Copyright: © 2020 Elsevier B.V.

PY - 2020/8

Y1 - 2020/8

N2 - We report on familial 5 epilepsy patients with autosomal dominant inheritance of a novel heterozygous NUS1 frameshift mutation. All patients had cerebellar ataxia and tremor. Three patients were diagnosed with childhood absence epilepsy, 1 patient with generalized epilepsy, and 1 patient with parkinsonism without epilepsy. Our cases and previously reported cases with deletions of chromosome 6q22 that include NUS1 share these common symptoms. In a cellular experiment, NUS1 mutation led to a substantial reduction of the protein level of NUS1. NUS1 mutation could contribute to epilepsy pathogenesis and also constitute a distinct syndromic entity with cerebellar ataxia and tremor.

AB - We report on familial 5 epilepsy patients with autosomal dominant inheritance of a novel heterozygous NUS1 frameshift mutation. All patients had cerebellar ataxia and tremor. Three patients were diagnosed with childhood absence epilepsy, 1 patient with generalized epilepsy, and 1 patient with parkinsonism without epilepsy. Our cases and previously reported cases with deletions of chromosome 6q22 that include NUS1 share these common symptoms. In a cellular experiment, NUS1 mutation led to a substantial reduction of the protein level of NUS1. NUS1 mutation could contribute to epilepsy pathogenesis and also constitute a distinct syndromic entity with cerebellar ataxia and tremor.

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DO - 10.1016/j.eplepsyres.2020.106371

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AN - SCOPUS:85085623748

SN - 0920-1211

VL - 164

JO - Journal of Epilepsy

JF - Journal of Epilepsy

M1 - 106371

ER -

NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor

Abstract

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