Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Carson Flamm"'
Autor:
Felicia Mermer, Sarah Poliquin, Shuizhen Zhou, Xiaodong Wang, Yifeng Ding, Fei Yin, Wangzhen Shen, Juexin Wang, Kathryn Rigsby, Dong Xu, Taralynn Mack, Gerald Nwosu, Carson Flamm, Matthew Stein, Jing-Qiong Kang
Publikováno v:
Neurobiology of Disease, Vol 172, Iss , Pp 105810- (2022)
Objective: Mutations in γ-aminobutyric acid (GABA) transporter 1 (GAT-1)-encoding SLC6A1 have been associated with myoclonic atonic epilepsy and other phenotypes. We determined the patho-mechanisms of the mutant GAT-1, in order to identify treatment
Externí odkaz:
https://doaj.org/article/d1f63b8a4f894bc59d7315bb22010afa
Autor:
Jie Wang, Sarah Poliquin, Felicia Mermer, Jaclyn Eissman, Eric Delpire, Juexin Wang, Wangzhen Shen, Kefu Cai, Bing-Mei Li, Zong-Yan Li, Dong Xu, Gerald Nwosu, Carson Flamm, Wei-Ping Liao, Yi-Wu Shi, Jing-Qiong Kang
Publikováno v:
Molecular Brain, Vol 13, Iss 1, Pp 1-15 (2020)
Abstract Mutations in SLC6A1, encoding γ-aminobutyric acid (GABA) transporter 1 (GAT-1), have been recently associated with a spectrum of epilepsy syndromes, intellectual disability and autism in clinic. However, the pathophysiology of the gene muta
Externí odkaz:
https://doaj.org/article/cbe6c3611641421f8f2d03e15a5876da
Autor:
Shimian Qu, Laurel G. Jackson, Chengwen Zhou, DingDing Shen, Wangzhen Shen, Gerald Nwosu, Rachel Howe, Mackenzie A. Catron, Carson Flamm, Marshall Biven, Jing‐Qiong Kang, Robert L. Macdonald
Publikováno v:
Epilepsia. 64:1061-1073
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b6421c5ef240daffd63b946cef35611
https://doi.org/10.1111/epi.17470
https://doi.org/10.1111/epi.17470
Autor:
Shimian, Qu, Laurel G, Jackson, Chengwen, Zhou, DingDing, Shen, Wangzhen, Shen, Gerald, Nwosu, Rachel, Howe, Mackenzie, Caltron, Carson, Flamm, Marshall, Biven, Jing-Qiong, Kang, Robert L, Macdonald
Publikováno v:
Epilepsia.
Infantile spasms are anis an epileptic encephalopathy of childhood, and its pathophysiology is largely unknown.We generated a heterozygous knock-in mouse with the human infantile spasms-associated de novo mutation GABRB3(c.A328G, p.N110D) to investig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::22c98efa4844ddc1c379c35d975ffd61
https://pubmed.ncbi.nlm.nih.gov/36495145
https://pubmed.ncbi.nlm.nih.gov/36495145
Autor:
Gerald Ikemefuna Nwosu, Wangzhen Shen, Kirill Zavalin, Sarah Poliquin, Karishma Randhave, Carson Flamm, Marshall Biven, Katherine Langer, Jing-Qiong Kang
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 9; Pages: 8458
Lennox–Gastaut Syndrome (LGS) is a developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types, electroencephalogram (EEG) patterns, and cognitive decline. Its etiology has a prominent genetic component, including varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b09d617fee98749dfd9bd74e3730cace
https://doi.org/10.3390/ijms24098458
https://doi.org/10.3390/ijms24098458
Autor:
Gerald Nwosu, Felicia Mermer, Carson Flamm, Sarah Poliquin, Wangzhen Shen, Kathryn Rigsby, Jing Qiong Kang
Publikováno v:
Brain Communications. 4
We have studied the molecular mechanisms of variants in solute carrier Family 6 Member 1 associated with neurodevelopmental disorders, including various epilepsy syndromes, autism and intellectual disability. Based on functional assays of solute carr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ed7bb93b899b11eda538ea1a8e427cf
https://doi.org/10.1093/braincomms/fcac144
https://doi.org/10.1093/braincomms/fcac144
Autor:
Jing-Qiong Kang, Sarah Poliquin, Zong-Yan Li, Kefu Cai, Bing-Mei Li, Yi-Wu Shi, Felicia Mermer, Dong Xu, Gerald Nwosu, Carson Flamm, Jaclyn Eissman, Juexin Wang, Jie Wang, Eric Delpire, Wangzhen Shen, Wei-Ping Liao
Publikováno v:
Molecular Brain, Vol 13, Iss 1, Pp 1-15 (2020)
Molecular Brain
Molecular Brain
Mutations in SLC6A1, encoding γ-aminobutyric acid (GABA) transporter 1 (GAT-1), have been recently associated with a spectrum of epilepsy syndromes, intellectual disability and autism in clinic. However, the pathophysiology of the gene mutations is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d93651dda81e76f5b8eac1f62f7d384
http://link.springer.com/article/10.1186/s13041-020-00612-6
http://link.springer.com/article/10.1186/s13041-020-00612-6
Autor:
Felicia Mermer, Sarah Poliquin, Shuizhen Zhou, Xiaodong Wang, Yifeng Ding, Fei Yin, Wangzhen Shen, Juexin Wang, Kathryn Rigsby, Dong Xu, Taralynn Mack, Gerald Nwosu, Carson Flamm, Matthew Stein, Jing-Qiong Kang
Publikováno v:
Neurobiology of disease. 172
Mutations in γ-aminobutyric acid (GABA) transporter 1 (GAT-1)-encoding SLC6A1 have been associated with myoclonic atonic epilepsy and other phenotypes. We determined the patho-mechanisms of the mutant GAT-1, in order to identify treatment targets.We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::473a27b554cbf6ebb035355252911bf4
https://pubmed.ncbi.nlm.nih.gov/35840120
https://pubmed.ncbi.nlm.nih.gov/35840120
Autor:
Gerald Nwosu, Felicia Mermer, Carson Flamm, Sarah Poliquin, Wangzhen Shen, Kathryn Rigsby, Jing-Qiong Kang
We have previously studied the molecular mechanisms of solute carrier family 6 member 1 (SLC6A1) associated with a continuum of neurodevelopmental disorders, including various epilepsy syndromes, autism, and intellectual disability. Based on function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3862fe1848103f597e48fdb579350d5d
https://doi.org/10.1101/2021.12.08.471799
https://doi.org/10.1101/2021.12.08.471799
