The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
Work
Year: 2022
Type: article
Abstract: Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizur... more
Source: Brain
Institutions Royal Hospital for Children, University of Glasgow, University of Cologne, Centre for Biomedical Network Research on Rare Diseases, Hospital Sant Joan de Déu Barcelona +41 more
Cites: 60
Cited by: 78
Related to: 10
FWCI: 18.28
Citation percentile (by year/subfield): 99.99
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
APC paid (est): $4,486
Funder Dravet Syndrome Foundation
Grant ID 272016