Somatostatin-Positive Interneurons Contribute to Seizures inSCN8AEpileptic Encephalopathy

Autor: Eric R. Wengert, Manoj K. Patel, Jeremy A. Thompson, Payal S. Panchal, Pravin K. Wagley, Raquel M. Miralles, Abrar Majidi Idrissi, Ian C. Wenker, Ronald P. Gaykema, Kyle C. A. Wedgwood, Samantha M. Strohm

Publikováno v: The Journal of Neuroscience. 41:9257-9273

SCN8Aepileptic encephalopathy is a devastating epilepsy syndrome caused by mutantSCN8A, which encodes the voltage-gated sodium channel NaV1.6. To date, it is unclear if and how inhibitory interneurons, which express NaV1.6, influence disease patholog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1ee380df2e06201f55f86827fd518ab2
https://doi.org/10.1523/jneurosci.0718-21.2021

Postictal Death Is Associated with Tonic Phase Apnea in a Mouse Model of Sudden Unexpected Death in Epilepsy

Autor: Miriam H. Meisler, Eric R. Wengert, Howard P. Goodkin, George B. Richerson, Manoj K. Patel, Elizabeth A Blizzard, Frida A. Teran, Pravin K. Wagley, Priyanka Saraf, Jacy L. Wagnon, Ian C. Wenker, Payal S. Panchal

Publikováno v: Ann Neurol

Objective Sudden unexpected death in epilepsy (SUDEP) is an unpredictable and devastating comorbidity of epilepsy that is believed to be due to cardiorespiratory failure immediately after generalized convulsive seizures. Methods We performed cardiore

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::732733668ddf58fc3a14c92831e6bcd7
https://pubmed.ncbi.nlm.nih.gov/33604927

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