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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.
Nature Medicine
|
April 22, 2025
Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy
Matias Wagner, Géza Berecki, Walid Fazeli, et al.
Plos One
|
March 21, 2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures
Toshiyuki Yamamoto, Keiko Shimojima, Noriko Sangu, 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.
Brain : a Journal of Neurology
|
April 30, 2019
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures
Snezana Maljevic, Boris Keren, Ye Htet Aung, et al.
Ebiomedicine
|
September 11, 2022
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
Johanna Krüger, Julian Schubert, Josua Kegele, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
September 21, 2007
Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation
Yaroslav Teper, Douglas Whyte, Elizabeth Cahir, et al.
Annals of Clinical and Translational Neurology
|
July 30, 2019
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations
Jillian M Cameron, Snezana Maljevic, Umesh Nair, et al.
European Heart Journal
|
April 24, 2016
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy
Dean G Phelan, David J Anderson, Sara E Howden, et al.
Page
of 19
Search research articles
Search
Showing results (161-170 of 182) with videos related to
Sort By:
Page
of 19
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.
Nature Medicine
|
April 22, 2025
Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy
Matias Wagner, Géza Berecki, Walid Fazeli, et al.
Plos One
|
March 21, 2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures
Toshiyuki Yamamoto, Keiko Shimojima, Noriko Sangu, 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.
Brain : a Journal of Neurology
|
April 30, 2019
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures
Snezana Maljevic, Boris Keren, Ye Htet Aung, et al.
Ebiomedicine
|
September 11, 2022
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
Johanna Krüger, Julian Schubert, Josua Kegele, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
September 21, 2007
Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation
Yaroslav Teper, Douglas Whyte, Elizabeth Cahir, et al.
Annals of Clinical and Translational Neurology
|
July 30, 2019
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations
Jillian M Cameron, Snezana Maljevic, Umesh Nair, et al.
European Heart Journal
|
April 24, 2016
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy
Dean G Phelan, David J Anderson, Sara E Howden, et al.
Page
of 19