Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Raquel M, Miralles"'
Autor:
Jeremy A. Thompson, Raquel M. Miralles, Eric R. Wengert, Pravin K. Wagley, Wenxi Yu, Ian C. Wenker, Manoj K. Patel
Publikováno v:
Epilepsia Open, Vol 7, Iss 2, Pp 280-292 (2022)
Abstract Objective SCN8A epileptic encephalopathy is caused predominantly by de novo gain‐of‐function mutations in the voltage‐gated sodium channel Nav1.6. The disorder is characterized by early onset of seizures and developmental delay. Most p
Externí odkaz:
https://doaj.org/article/d2052a1ccd2c4120a7aa09064b084006
Autor:
Pravin K. Wagley, Manoj K. Patel, Jeremy A. Thompson, Wenxi Yu, Ian C. Wenker, Raquel M Miralles, Eric R. Wengert
Publikováno v:
Epilepsia Open. 7:280-292
Objective SCN8A epileptic encephalopathy is caused predominantly by de novo gain-of-function mutations in the voltage-gated-sodium channel Nav 1.6. The disorder is characterized by early onset of seizures and developmental delay. Most patients with S
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
Autor:
Manoj K. Patel, Raquel M. Miralles
Publikováno v:
Epilepsy Currents. 22:69-71