© 2024 CLIRINXHPO Data Version: Oct 10th, 2021
Pablo JLB, et al. 2024. Scanning mutagenesis of the voltage-gated sodium channel Na1.2 using base editing. Cell Rep (Jun 2024)
Vanoye CG, et al. 2024. Molecular and cellular context influences SCN8A variant function. JCI Insight (May 2024)
Berg AT, et al. 2024. Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders. Brain (Aug 2024)
Kang SK, et al. 2024. Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant. Neurobiol Dis (May 2024)
Chi W, Kiskinis E. 2024. Integrative analysis of epilepsy-associated genes reveals expression-phenotype correlations. Sci Rep (Feb 2024)