Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

Michael F. Hammer; Atsushi Ishii; Laurel Johnstone; Alexander Tchourbanov; Branden Lau; Ryan Sprissler; Brian Hallmark; Miao Zhang; Jin Zhou; Joseph Watkins; Shinichi Hirose

doi:10.1371/journal.pone.0180485

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Open Access

Peer-reviewed

Research Article

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

Michael F. Hammer ,

* E-mail: mfh@email.arizona.edu (MFH); hirose@fukuoka-u.ac.jp (SH)

Affiliations ARL Division of Biotechnology, University of Arizona, Tucson, AZ, United States of America, Neurology Department, University of Arizona, Tucson, AZ United States of America

http://orcid.org/0000-0003-0172-429X

⨯
Atsushi Ishii,

Affiliations ARL Division of Biotechnology, University of Arizona, Tucson, AZ, United States of America, Department of Pediatrics, School of Medicine and Central Research Institute for the Molecular Pathogeneses of Epilepsy, Fukuoka University, Fukuoka, Japan
⨯
Laurel Johnstone,

Affiliation ARL Division of Biotechnology, University of Arizona, Tucson, AZ, United States of America
⨯
Alexander Tchourbanov,

Affiliation ARL Division of Biotechnology, University of Arizona, Tucson, AZ, United States of America
⨯
Branden Lau,

Affiliation ARL Division of Biotechnology, University of Arizona, Tucson, AZ, United States of America
⨯
Ryan Sprissler,

Affiliation ARL Division of Biotechnology, University of Arizona, Tucson, AZ, United States of America
⨯
Brian Hallmark,

Affiliation Interdisciplinary Program in Statistics, University of Arizona, Tucson, AZ United States of America
⨯
Miao Zhang,

Affiliation Interdisciplinary Program in Statistics, University of Arizona, Tucson, AZ United States of America
⨯
Jin Zhou,

Affiliation College of Public Health, University of Arizona, Tucson, AZ United States of America
⨯
Joseph Watkins,

Affiliation Department of Mathematics, University of Arizona, Tucson, AZ United States of America
⨯
Shinichi Hirose

* E-mail: mfh@email.arizona.edu (MFH); hirose@fukuoka-u.ac.jp (SH)

Affiliation Department of Pediatrics, School of Medicine and Central Research Institute for the Molecular Pathogeneses of Epilepsy, Fukuoka University, Fukuoka, Japan
⨯

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

Michael F. Hammer,
Atsushi Ishii,
Laurel Johnstone,
Alexander Tchourbanov,
Branden Lau,
Ryan Sprissler,
Brian Hallmark,
Miao Zhang,
Jin Zhou,
Joseph Watkins

Published: July 7, 2017
https://doi.org/10.1371/journal.pone.0180485

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