SCN8Aencephalopathy: Research progress and prospects

    loading  Checking for direct PDF access through Ovid


On April 21, 2015, the firstSCN8AEncephalopathy 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.SCN8Aencephalopathy is a rare disorder caused by de novo missense mutations of the sodium channel geneSCN8A, which encodes the neuronal sodium channel Nav1.6. Since the initial description in 2012, approximately 140 affected individuals have been reported in publications or bySCN8Afamily groups. As a result, an understanding of the severe impact ofSCN8Amutations 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 ofSCN8Aand theSCN1Amutations in Dravet syndrome, (2) biophysical properties of the Nav1.6 channel, (3) electrophysiologic effects of patient mutations on channel properties, (4) cell and animal models ofSCN8Aencephalopathy, (5) drug screening strategies, (6) the phenotypic spectrum ofSCN8Aencephalopathy, 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. AlthoughSCN8Aencephalopathy 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.

Related Topics

    loading  Loading Related Articles