Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Samantha M. Strohm"'
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
https://doi.org/10.1523/jneurosci.0718-21.2021
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
https://pubmed.ncbi.nlm.nih.gov/34843701
Autor:
Eric R, Wengert, Raquel M, Miralles, Kyle C A, Wedgwood, Pravin K, Wagley, Samantha M, Strohm, Payal S, Panchal, Abrar Majidi, Idrissi, Ian C, Wenker, Jeremy A, Thompson, Ronald P, Gaykema, Manoj K, Patel
Publikováno v:
J Neurosci
SCN8A epileptic encephalopathy is a devastating epilepsy syndrome caused by mutant SCN8A, which encodes the voltage-gated sodium channel Na(V)1.6. To date, it is unclear if and how inhibitory interneurons, which express Na(V)1.6, influence disease pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::34c9502a6fe097e2cdaf34a9d87d53be
https://pubmed.ncbi.nlm.nih.gov/34544834
https://pubmed.ncbi.nlm.nih.gov/34544834
Autor:
Kyle C. A. Wedgwood, Manoj K. Patel, Eric R. Wengert, Ronald P. Gaykema, A. M. Idrissi, Samantha M. Strohm, Ian C. Wenker, Pravin K. Wagley, Payal S. Panchal
SCN8Aepileptic encephalopathy is a devastating epilepsy syndrome caused by mutantSCN8Awhich encodes the voltage-gated sodium channel NaV1.6. To date, it is unclear if and how inhibitory interneurons, which express NaV1.6, influence disease pathology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cbffe9e476a8e85659eca2b60e47d69a
https://doi.org/10.1101/2021.02.05.429987
https://doi.org/10.1101/2021.02.05.429987
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
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
https://findresearcher.sdu.dk:8443/ws/files/170699550/epi.16371.pdf