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Title: SCN8A encephalopathy: Research progress and prospects.
Austin Authors: Meisler, Miriam H;Helman, Guy;Hammer, Michael F;Fureman, Brandy E;Gaillard, William D;Goldin, Alan L;Hirose, Shinichi;Ishii, Atsushi;Kroner, Barbara L;Lossin, Christoph;Mefford, Heather C;Parent, Jack M;Patel, Manoj;Schreiber, John;Stewart, Randall;Whittemore, Vicky;Wilcox, Karen;Wagnon, Jacy L;Pearl, Phillip L;Vanderver, Adeline;Scheffer, Ingrid E 
Affiliation: Microbiology & Molecular Genetics and Anatomy & Neurobiology, University of California, Irvine, California, USA
ARL Division of Biotechnology, University of Arizona, Tucson, Arizona, USA
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Biostatistics and Epidemiology, RTI International, Rockville, Maryland, USA
Florey Institute of Neurosciences and Mental Health, Melbourne, Victoria, Australia
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia
Center for Genetic Medicine Research, Children's National Health System, Washington, District of Columbia, USA
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA
Department of Neurology, Children's National Health System, Washington, District of Columbia, USA
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
Anticonvulsant Drug Development Program, Department of Pharmacology and Toxicology, University of Utah, Salt Lake City, Utah, USA
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
Department of Anesthesiology, University of Virginia Health System, Charlottesville, Virginia, USA
Department of Neurology, University of Michigan Medical Center and VA Ann Arbor Healthcare System, Ann Arbor, Michigan, USA
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA
Department of Neurology, School of Medicine, University of California Davis, Sacramento, California, USA
Center for Neuroscience Research, Children's National Health System, Washington, District of Columbia, USA
Department of Integrated Systems Biology and Pediatrics, George Washington University, Washington, District of Columbia, USA
Department of Pediatrics, Fukuoka University School of Medicine, Fukuoka, Japan
Issue Date: Jul-2016
Date: 2016-06-08
Publication information: Epilepsia 2016; 57(7): 1027-35
Abstract: On April 21, 2015, the first SCN8A Encephalopathy Research Group convened in Washington, DC, 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. SCN8A encephalopathy is a rare disorder caused by de novo missense mutations of the sodium channel gene SCN8A, which encodes the neuronal sodium channel Nav 1.6. Since the initial description in 2012, approximately 140 affected individuals have been reported in publications or by SCN8A family groups. As a result, an understanding of the severe impact of SCN8A 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 SCN8A and the SCN1A mutations in Dravet syndrome, (2) biophysical properties of the Nav 1.6 channel, (3) electrophysiologic effects of patient mutations on channel properties, (4) cell and animal models of SCN8A encephalopathy, (5) drug screening strategies, (6) the phenotypic spectrum of SCN8A 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 SCN8A 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.
DOI: 10.1111/epi.13422
ORCID: 0000-0001-8101-2924
Journal: Epilepsia
PubMed URL: 27270488
Type: Journal Article
Subjects: Bioregistry
Drug screening
Sodium channel
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