Search Results - "Flamm, Carson"

Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans by Mermer, Felicia, Poliquin, Sarah, Zhou, Shuizhen, Wang, Xiaodong, Ding, Yifeng, Yin, Fei, Shen, Wangzhen, Wang, Juexin, Rigsby, Kathryn, Xu, Dong, Mack, Taralynn, Nwosu, Gerald, Flamm, Carson, Stein, Matthew, Kang, Jing-Qiong

“…Mutations in γ-aminobutyric acid (GABA) transporter 1 (GAT-1)-encoding SLC6A1 have been associated with myoclonic atonic epilepsy and other phenotypes. We…”
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Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome by Poliquin, Sarah, Nwosu, Gerald, Randhave, Karishma, Shen, Wangzhen, Flamm, Carson, Kang, Jing-Qiong

“…A significant number of patients with genetic epilepsy do not obtain seizure freedom, despite developments in new antiseizure drugs, suggesting a need for…”
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GABAA Receptor β3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox–Gastaut Syndrome by Nwosu, Gerald Ikemefuna, Shen, Wangzhen, Zavalin, Kirill, Poliquin, Sarah, Randhave, Karishma, Flamm, Carson, Biven, Marshall, Langer, Katherine, Kang, Jing-Qiong

“…Lennox–Gastaut Syndrome (LGS) is a developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types, electroencephalogram (EEG)…”
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Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism by Wang, Jie, Poliquin, Sarah, Mermer, Felicia, Eissman, Jaclyn, Delpire, Eric, Wang, Juexin, Shen, Wangzhen, Cai, Kefu, Li, Bing-Mei, Li, Zong-Yan, Xu, Dong, Nwosu, Gerald, Flamm, Carson, Liao, Wei-Ping, Shi, Yi-Wu, Kang, Jing-Qiong

“…Mutations in SLC6A1, encoding γ-aminobutyric acid (GABA) transporter 1 (GAT-1), have been recently associated with a spectrum of epilepsy syndromes,…”
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4-phenylbutyrate promoted wildtype GABAA receptor trafficking, reduced Endoplasmic reticulum stress and mitigated seizures in Gabrg2+/Q390X mice associated with Dravet syndrome by Shen, Wangzhen, Flamm, Carson, Delahanty, Aiden J, Casteel, Emmett, Biven, Marshall, DeLeeuw, Melissa B, Poliquin, Sarah, Nwosu, Gerald, Randhave, Karishma, Kang, Jing-Qiong

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GABA A Receptor β3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox-Gastaut Syndrome by Nwosu, Gerald Ikemefuna, Shen, Wangzhen, Zavalin, Kirill, Poliquin, Sarah, Randhave, Karishma, Flamm, Carson, Biven, Marshall, Langer, Katherine, Kang, Jing-Qiong

“…Lennox-Gastaut Syndrome (LGS) is a developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types, electroencephalogram (EEG)…”
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4‐Phenylbutyrate promoted wild‐type γ‐aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2+/Q390X mice associated with Dravet syndrome by Shen, Wangzhen, Flamm, Carson, Delahanty, Aiden J., Casteel, Emmett, Biven, Marshall, DeLeeuw, Melissa B., Poliquin, Sarah, Nwosu, Gerald, Randhave, Karishma, Kang, Jing‐Qiong

“…Objective γ‐Aminobutyric acid type A (GABAA) receptor subunit gene mutations are major causes of various epilepsy syndromes, including severe kinds such as…”
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Heterozygous GABA A receptor β3 subunit N110D knock-in mice have epileptic spasms by Qu, Shimian, Jackson, Laurel G, Zhou, Chengwen, Shen, DingDing, Shen, Wangzhen, Nwosu, Gerald, Howe, Rachel, Catron, Mackenzie A, Flamm, Carson, Biven, Marshall, Kang, Jing-Qiong, Macdonald, Robert L

“…Infantile spasms is an epileptic encephalopathy of childhood, and its pathophysiology is largely unknown. We generated a heterozygous knock-in mouse with the…”
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Heterozygous GABAA receptor β3 subunit N110D knock‐in mice have epileptic spasms by Qu, Shimian, Jackson, Laurel G., Zhou, Chengwen, Shen, DingDing, Shen, Wangzhen, Nwosu, Gerald, Howe, Rachel, Catron, Mackenzie A., Flamm, Carson, Biven, Marshall, Kang, Jing‐Qiong, Macdonald, Robert L.

“…Objective Infantile spasms is an epileptic encephalopathy of childhood, and its pathophysiology is largely unknown. We generated a heterozygous knock‐in mouse…”
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4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in SLC6A1 patient variant-bearing cell and mouse models by Nwosu, Gerald, Mermer, Felicia, Flamm, Carson, Poliquin, Sarah, Shen, Wangzhen, Rigsby, Kathryn, Kang, Jing Qiong

“…Abstract We have studied the molecular mechanisms of variants in solute carrier Family 6 Member 1 associated with neurodevelopmental disorders, including…”
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γ-Aminobutyric acid transporter and GABAA receptor mechanisms in Slc6a1+/A288V and Slc6a1+/S295L mice associated with developmental and epileptic encephalopathies by Shen, Wangzhen, Nwosu, Gerald, Honer, Michael, Clasadonte, Jerome, Schmalzbauer, Svenja, Biven, Marshall, Langer, Katherine, Flamm, Carson, Poliquin, Sarah, Mermer, Felicia, Dedeurwaerdere, Stefanie, Hernandez, Maria-Clemencia, Kang, Jing-Qiong

“…We have previously characterized the molecular mechanisms for variants in γ-aminobutyric acid transporter 1-encoding solute carrier family 6-member 1 (SLC6A1)…”
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γ-Aminobutyric acid transporter and GABA A receptor mechanisms in Slc6a1 +/A288V and Slc6a1 +/S295L mice associated with developmental and epileptic encephalopathies by Shen, Wangzhen, Nwosu, Gerald, Honer, Michael, Clasadonte, Jerome, Schmalzbauer, Svenja, Biven, Marshall, Langer, Katherine, Flamm, Carson, Poliquin, Sarah, Mermer, Felicia, Dedeurwaerdere, Stefanie, Hernandez, Maria-Clemencia, Kang, Jing-Qiong

“…We have previously characterized the molecular mechanisms for variants in γ-aminobutyric acid transporter 1-encoding solute carrier family 6-member 1 ( ) and…”
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