Webinars

FamilieSCN2A rx: Hope Table Talks

Sept 5th, 2019 Update on KCNQ2 Studies in the Channelopathy-Associated Epilepsy Research Center without Walls from KCNQ2 Cure Alliance on Vimeo.

July 24, 2019 A New Clinical Trial in KCNQ2-DEE and Upcoming Related Patient Survey from KCNQ2 Cure Alliance on Vimeo.

March 2019 Episode #6 - Epilepsy Genetics: Testing Can Make a Difference featuring Dr. John Millichap from CURE - Citizens United for Research In Epilepsy

Jan 25th, 2017 KCNB1 webinar

Listen to SCN2A Insights each month for the latest on SCN2A and genetic epilepsy

Recent Publications

Clatot J, et al. 2022. A KCNC1-related neurological disorder due to gain of Kv3.1 function. Ann Clin Transl Neurol (Nov 2022)

Mazzaferro S, et al. 2022. Genetic Variant in Nicotinic Receptor α4-Subunit Causes Sleep-Related Hyperkinetic Epilepsy via Increased Channel Opening. Int J Mol Sci (Oct 2022)

Clatot J, et al. 2022. SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy. Epilepsia (Oct 2022)

Seiffert S, et al. 2022. Modulating effects of FGF12 variants on Na1.2 and Na1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series. EBioMedicine (Sep 2022)

Gavazzi F, et al. 2022. Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN). Mol Genet Metab (2022)