Journal article
SCN8A encephalopathy: Research progress and prospects
MH Meisler, G Helman, MF Hammer, BE Fureman, WD Gaillard, AL Goldin, S Hirose, A Ishii, BL Kroner, C Lossin, HC Mefford, JM Parent, M Patel, J Schreiber, R Stewart, V Whittemore, K Wilcox, JL Wagnon, PL Pearl, A Vanderver Show all
Epilepsia | WILEY | Published : 2016
DOI: 10.1111/epi.13422
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 Nav1.6. 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..
View full abstractGrants
Awarded by National Institutes of Health
Funding Acknowledgements
We thank the patients, families, and caregivers affected by SCN8A encephalopathy. The first SCN8A Encephalopathy Meeting was hosted and sponsored by the Wishes for Elliott: Advancing SCN8A Research family group. Support from the National Institutes of Health is acknowledged by MHM (R01 NS34509), MKP (R01 NS075157), AG (R01 NS0090319), and BLK (U01 DP003255-01, PCORI PPRN-1306-04577).