Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria-Reference-Cited by-同舟云学术

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria

Published:2018-07 Issue:1 Volume:84 Page:159-161
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Miyatake Satoko¹²,Kato Mitsuhiro³,Sawaishi Yukio⁴,Saito Takashi⁵,Nakashima Mitsuko¹⁶,Mizuguchi Takeshi¹,Mitsuhashi Satomi¹,Takata Atsushi¹,Miyake Noriko¹,Saitsu Hirotomo¹⁶,Matsumoto Naomichi¹

Affiliation:

1. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama Kanagawa Japan

2. Clinical Genetics Department; Yokohama City University Hospital; Yokohama Kanagawa Japan

3. Department of Pediatrics; Showa University School of Medicine; Tokyo Japan

4. Department of Pediatrics; Akita Prefectural Center on Development and Disability; Akita Japan

5. Department of Child Neurology; National Center Hospital of Neurology and Psychiatry; Kodaira Japan

6. Department of Biochemistry; Hamamatsu University School of Medicine; Shizuoka Japan

Funder

Research on Measures for Intractable Diseases

Comprehensive Research on Disability Health and Welfare

Strategic Research Program for Brain Science

Initiative on Rare and Undiagnosed Diseases in Pediatrics

Initiative on Rare and Undiagnosed Diseases for Adults

Japanese Agency for Medical Research and Development

Grant-in-Aid for Scientific Research on Innovative Areas (Transcription Cycle)

Ministry of Education, Culture, Sports, Science and Technology of Japan

Grants-in-Aid for Scientific Research

Creation of Innovation Centers for Advanced Interdisciplinary Research Areas Program in the Project for Developing Innovation Systems

Ministry of Health, Labor and Welfare

Intramural Research Grant

Neurological and Psychiatric Disorders of NCNP

Takeda Science Foundation

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.25256/fullpdf

Reference5 articles.

1. Mutations in SCN3A cause early infantile epileptic encephalopathy;Zaman;Ann Neurol,2018

2. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome;Miyatake;JHum Genet,2017

3. Co-occurring malformations of cortical development and SCN1A gene mutations;Barba;Epilepsia,2014

4. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects;Platzer;JMed Genet,2017

5. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria;Fry;Brain,2018

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