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
Forrest MP, et al. 2023. Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub. Nat Commun (Feb 2023)
Müller P, et al. 2023. KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine. Ann Clin Transl Neurol (Feb 2023)
Ruggiero SM, et al. 2023. The current landscape of epilepsy genetics: where are we, and where are we going? Curr Opin Neurol (Apr 2023)
Clatot J, et al. 2023. A KCNC1-related neurological disorder due to gain of Kv3.1 function. Ann Clin Transl Neurol (Jan 2023)
Parthasarathy S, et al. 2022. A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism. Am J Hum Genet (Dec 2022)