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JCI Insight
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September 29, 2022
Antisense oligonucleotide therapy for KCNT1 encephalopathy
Lisseth Estefania Burbano, Melody Li, Nikola Jancovski, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 20, 2007
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy
Heneu O Tan, Christopher A Reid, Frank N Single, et al.
The Journal of Clinical Investigation
|
December 1, 2021
Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model
Melody Li, Nikola Jancovski, Paymaan Jafar-Nejad, et al.
Annals of Clinical and Translational Neurology
|
May 18, 2021
Loss-of-function variants in K<sub>v</sub> 11.1 cardiac channels as a biomarker for SUDEP
Ming S Soh, Richard D Bagnall, Mark F Bennett, et al.
Neurology
|
April 1, 2016
A targeted resequencing gene panel for focal epilepsy
Michael S Hildebrand, Candace T Myers, Gemma L Carvill, et al.
The Journal of Clinical Investigation
|
July 15, 2010
Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus
Verena C Wimmer, Christopher A Reid, Suzanne Mitchell, et al.
Neurology. Genetics
|
December 28, 2018
Development of a rapid functional assay that predicts GLUT1 disease severity
Sasha M Zaman, Saul A Mullen, Slavé Petrovski, et al.
Annals of Neurology
|
March 5, 2014
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
Carol J Milligan, Melody Li, Elena V Gazina, et al.
Human Mutation
|
October 25, 2017
Gain-of-function HCN2 variants in genetic epilepsy
Melody Li, Snezana Maljevic, A Marie Phillips, et al.
Scientific Reports
|
December 10, 2015
Loss of synaptic Zn2+ transporter function increases risk of febrile seizures
Michael S Hildebrand, A Marie Phillips, Saul A Mullen, et al.
Page
of 14
Search research articles
Search
Showing results (111-120 of 131) with videos related to
Sort By:
Page
of 14
JCI Insight
|
September 29, 2022
Antisense oligonucleotide therapy for KCNT1 encephalopathy
Lisseth Estefania Burbano, Melody Li, Nikola Jancovski, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 20, 2007
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy
Heneu O Tan, Christopher A Reid, Frank N Single, et al.
The Journal of Clinical Investigation
|
December 1, 2021
Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model
Melody Li, Nikola Jancovski, Paymaan Jafar-Nejad, et al.
Annals of Clinical and Translational Neurology
|
May 18, 2021
Loss-of-function variants in K<sub>v</sub> 11.1 cardiac channels as a biomarker for SUDEP
Ming S Soh, Richard D Bagnall, Mark F Bennett, et al.
Neurology
|
April 1, 2016
A targeted resequencing gene panel for focal epilepsy
Michael S Hildebrand, Candace T Myers, Gemma L Carvill, et al.
The Journal of Clinical Investigation
|
July 15, 2010
Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus
Verena C Wimmer, Christopher A Reid, Suzanne Mitchell, et al.
Neurology. Genetics
|
December 28, 2018
Development of a rapid functional assay that predicts GLUT1 disease severity
Sasha M Zaman, Saul A Mullen, Slavé Petrovski, et al.
Annals of Neurology
|
March 5, 2014
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
Carol J Milligan, Melody Li, Elena V Gazina, et al.
Human Mutation
|
October 25, 2017
Gain-of-function HCN2 variants in genetic epilepsy
Melody Li, Snezana Maljevic, A Marie Phillips, et al.
Scientific Reports
|
December 10, 2015
Loss of synaptic Zn2+ transporter function increases risk of febrile seizures
Michael S Hildebrand, A Marie Phillips, Saul A Mullen, et al.
Page
of 14