Targeted Augmentation of Nuclear Gene Output (TANGO) of Scn1a rescues parvalbumin interneuron excitability and reduces seizures in a mouse model of Dravet Syndrome

Autor: Eric R. Wengert, Manoj K. Patel, Anne Christiansen, Ian C. Wenker, Pravin K. Wagley, Nuha Reza, Gene Liau, Samantha M. Strohm, Ronald P. Gaykema

Publikováno v: Brain research. 1775

Dravet Syndrome (DS) is a severe developmental and epileptic encephalopathy typically caused by loss-of-function de novo mutations in the SCN1A gene which encodes the voltage-gated sodium channel isoform NaV1.1. Decreased NaV1.1 expression results in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aca1cba7ecdfbda8882cb59f40f127e
https://pubmed.ncbi.nlm.nih.gov/34843701

Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy

Autor: Johannes R. Lemke, Susanne B. Kamphausen, Rikke S. Møller, Payal S. Panchal, Miriam H. Meisler, Samantha M. Strohm, Jörn Lange, Jacy L. Wagnon, Manoj K. Patel, Elena Gardella, Katrine M Johannesen, Ilona Krey, Cathrine E. Tronhjem, Eric R. Wengert, Hayley Petit, Anusha U. Saga, Guido Rubboli

Publikováno v: Wengert, E R, Tronhjem, C E, Wagnon, J L, Johannesen, K M, Petit, H, Krey, I, Saga, A U, Panchal, P S, Strohm, S M, Lange, J, Kamphausen, S B, Rubboli, G, Lemke, J R, Gardella, E, Patel, M K, Meisler, M H & Møller, R S 2019, ' Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy ', Epilepsia, vol. 60, no. 11, pp. 2277-2285 . https://doi.org/10.1111/epi.16371
Epilepsia

Objective: Monoallelic de novo gain-of-function variants in the voltage-gated sodium channel SCN8A are one of the recurrent causes of severe developmental and epileptic encephalopathy (DEE). In addition, a small number of de novo or inherited monoall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15d864d400d4dda1f9f10ac4bdf2113d
https://findresearcher.sdu.dk:8443/ws/files/170699550/epi.16371.pdf

Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopathy.

Autor: Wengert, Eric R., Tronhjem, Cathrine E., Wagnon, Jacy L., Johannesen, Katrine M., Petit, Hayley, Krey, Ilona, Saga, Anusha U., Panchal, Payal S., Strohm, Samantha M., Lange, Jörn, Kamphausen, Susanne B., Rubboli, Guido, Lemke, Johannes R., Gardella, Elena, Patel, Manoj K., Meisler, Miriam H., Møller, Rikke S.

Publikováno v: Epilepsia (Series 4); Nov2019, Vol. 60 Issue 11, p2277-2285, 9p

Chicago-Based Foundation To Be Headed By Indian-American.

Publikováno v: News India Times; 10/29/2021, Vol. 10 Issue 44, p7-7, 1/3p

Jasper's Basic Mechanisms of the Epilepsies

Autor: Jeffrey L. Noebels, Massimo Avoli, Michael A. Rogawski, Annamaria Vezzani, Antonio V. Delgado-Escueta

This is an open access title available under the terms of a CC BY-NC-ND 4.0 International licence. It is free to read at Oxford Academic and offered as a free PDF download from OUP and selected open access locations. Jasper's Basic Mechanisms of the