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Brain Communications
|
August 1, 2022
4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in <i>SLC6A1</i> patient variant-bearing cell and mouse models
Gerald Nwosu, Felicia Mermer, Carson Flamm, et al.
Circulation Research
|
September 21, 2002
Phosphorylation and putative ER retention signals are required for protein kinase A-mediated potentiation of cardiac sodium current
Jingsong Zhou, Hyeon-Gyu Shin, Jianxun Yi, et al.
Annals of Clinical and Translational Neurology
|
May 20, 2026
Unraveling 4-Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition
Melissa B DeLeeuw, Karishma Randhave, Ekta Anand, et al.
Scientific Reports
|
October 21, 2016
Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity
Juexin Wang, Dingding Shen, Geqing Xia, et al.
Brain Communications
|
May 30, 2020
GABA<sub>A</sub> receptor β3 subunit mutation D120N causes Lennox-Gastaut syndrome in knock-in mice
Shimian Qu, Mackenzie Catron, Chengwen Zhou, et al.
Experimental Neurology
|
May 7, 2021
Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD
Sarah Poliquin, Inna Hughes, Wangzhen Shen, et al.
Epilepsia
|
June 7, 2017
Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2<sup>+/Q390X</sup> Dravet syndrome mice
Xuan Huang, Chengwen Zhou, Mengnan Tian, et al.
Neurobiology of Disease
|
October 17, 2012
Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation
Mengnan Tian, Davide Mei, Elena Freri, et al.
Epilepsia
|
May 16, 2019
Molecular basis for and chemogenetic modulation of comorbidities in GABRG2-deficient epilepsies
Chun-Qing Zhang, Bryan McMahon, Huancheng Dong, et al.
Eneuro
|
February 16, 2017
Altered Channel Conductance States and Gating of GABA<sub>A</sub> Receptors by a Pore Mutation Linked to Dravet Syndrome
Ciria C Hernandez, Weijing Kong, Ningning Hu, et al.
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Search research articles
Search
Showing results (21-30 of 52) with videos related to
Sort By:
Page
of 6
Brain Communications
|
August 1, 2022
4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in <i>SLC6A1</i> patient variant-bearing cell and mouse models
Gerald Nwosu, Felicia Mermer, Carson Flamm, et al.
Circulation Research
|
September 21, 2002
Phosphorylation and putative ER retention signals are required for protein kinase A-mediated potentiation of cardiac sodium current
Jingsong Zhou, Hyeon-Gyu Shin, Jianxun Yi, et al.
Annals of Clinical and Translational Neurology
|
May 20, 2026
Unraveling 4-Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition
Melissa B DeLeeuw, Karishma Randhave, Ekta Anand, et al.
Scientific Reports
|
October 21, 2016
Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity
Juexin Wang, Dingding Shen, Geqing Xia, et al.
Brain Communications
|
May 30, 2020
GABA<sub>A</sub> receptor β3 subunit mutation D120N causes Lennox-Gastaut syndrome in knock-in mice
Shimian Qu, Mackenzie Catron, Chengwen Zhou, et al.
Experimental Neurology
|
May 7, 2021
Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD
Sarah Poliquin, Inna Hughes, Wangzhen Shen, et al.
Epilepsia
|
June 7, 2017
Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2<sup>+/Q390X</sup> Dravet syndrome mice
Xuan Huang, Chengwen Zhou, Mengnan Tian, et al.
Neurobiology of Disease
|
October 17, 2012
Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation
Mengnan Tian, Davide Mei, Elena Freri, et al.
Epilepsia
|
May 16, 2019
Molecular basis for and chemogenetic modulation of comorbidities in GABRG2-deficient epilepsies
Chun-Qing Zhang, Bryan McMahon, Huancheng Dong, et al.
Eneuro
|
February 16, 2017
Altered Channel Conductance States and Gating of GABA<sub>A</sub> Receptors by a Pore Mutation Linked to Dravet Syndrome
Ciria C Hernandez, Weijing Kong, Ningning Hu, et al.
Page
of 6