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- Miriam H. Meisler
- Department of Human Genetics University of Michigan Ann Arbor Michigan U.S.A
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- Guy Helman
- Department of Neurology Children's National Health System Washington District of Columbia U.S.A
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- Michael F. Hammer
- ARL Division of Biotechnology University of Arizona Tucson Arizona U.S.A
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- Brandy E. Fureman
- National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland U.S.A
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- William D. Gaillard
- Department of Neurology Children's National Health System Washington District of Columbia U.S.A
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- Alan L. Goldin
- Microbiology & Molecular Genetics and Anatomy & Neurobiology University of California Irvine California U.S.A
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- Shinichi Hirose
- Department of Pediatrics Fukuoka University School of Medicine Fukuoka Japan
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- Atsushi Ishii
- Department of Pediatrics Fukuoka University School of Medicine Fukuoka Japan
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- Barbara L. Kroner
- Biostatistics and Epidemiology RTI International Rockville Maryland U.S.A
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- Christoph Lossin
- Department of Neurology School of Medicine University of California Davis Sacramento California U.S.A
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- Heather C. Mefford
- Division of Genetic Medicine Department of Pediatrics University of Washington Seattle Washington U.S.A
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- Jack M. Parent
- Department of Neurology University of Michigan Medical Center and VA Ann Arbor Healthcare System Ann Arbor Michigan U.S.A
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- Manoj Patel
- Department of Anesthesiology University of Virginia Health System Charlottesville Virginia U.S.A
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- John Schreiber
- Department of Neurology Children's National Health System Washington District of Columbia U.S.A
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- Randall Stewart
- National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland U.S.A
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- Vicky Whittemore
- National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland U.S.A
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- Karen Wilcox
- Anticonvulsant Drug Development Program Department of Pharmacology and Toxicology University of Utah Salt Lake City Utah U.S.A
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- Jacy L Wagnon
- Department of Human Genetics University of Michigan Ann Arbor Michigan U.S.A
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- Phillip L. Pearl
- Department of Neurology Boston Children's Hospital Harvard Medical School Boston Massachusetts U.S.A
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- Adeline Vanderver
- Department of Neurology Children's National Health System Washington District of Columbia U.S.A
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- Ingrid E. Scheffer
- Department of Neurology Royal Children's Hospital Melbourne Victoria Australia
説明
<jats:title>Summary</jats:title><jats:p>On April 21, 2015, the first <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>8A</jats:italic> Encephalopathy Research Group convened in Washington, <jats:styled-content style="fixed-case">DC</jats:styled-content>, to assess current research into clinical and pathogenic features of the disorder and prepare an agenda for future research collaborations. The group comprised clinical and basic scientists and representatives of patient advocacy groups. <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>8A</jats:italic> encephalopathy is a rare disorder caused by de novo missense mutations of the sodium channel gene <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>8A</jats:italic>, which encodes the neuronal sodium channel Na<jats:sub>v</jats:sub>1.6. Since the initial description in 2012, approximately 140 affected individuals have been reported in publications or by <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>8A</jats:italic> family groups. As a result, an understanding of the severe impact of <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>8A</jats:italic> mutations is beginning to emerge. Defining a genetic epilepsy syndrome goes beyond identification of molecular etiology. Topics discussed at this meeting included (1) comparison between mutations of <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>8A</jats:italic> and the <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>1A</jats:italic> mutations in Dravet syndrome, (2) biophysical properties of the Na<jats:sub>v</jats:sub>1.6 channel, (3) electrophysiologic effects of patient mutations on channel properties, (4) cell and animal models of <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>8A</jats:italic> encephalopathy, (5) drug screening strategies, (6) the phenotypic spectrum of <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>8A</jats:italic> encephalopathy, and (7) efforts to develop a bioregistry. A panel discussion of gaps in bioregistry, biobanking, and clinical outcomes data was followed by a planning session for improved integration of clinical and basic science research. Although <jats:italic><jats:styled-content style="fixed-case">SCN</jats:styled-content>8A</jats:italic> encephalopathy was identified only recently, there has been rapid progress in functional analysis and phenotypic classification. The focus is now shifting from identification of the underlying molecular cause to the development of strategies for drug screening and prioritized patient care.</jats:p>
収録刊行物
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- Epilepsia
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Epilepsia 57 (7), 1027-1035, 2016-06-08
Wiley
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詳細情報 詳細情報について
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- CRID
- 1360565168110777728
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- ISSN
- 15281167
- 00139580
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- データソース種別
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- Crossref
- KAKEN