Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Jing-Qiong Kang"'
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:
Sarah Poliquin, Jing-Qiong Kang
Publikováno v:
Biomedicines, Vol 10, Iss 3, p 647 (2022)
The epilepsies are a broad group of conditions characterized by repeated seizures, and together are one of the most common neurological disorders. Additionally, epilepsy is comorbid with many neurological disorders, including lysosomal storage diseas
Externí odkaz:
https://doaj.org/article/570a778bf46f433b8a8ce4c7850c6319
Autor:
Ryan J. Delahanty, Yanfeng Zhang, Terry Jo Bichell, Wangzhen Shen, Kelienne Verdier, Robert L. Macdonald, Lili Xu, Kelli Boyd, Janice Williams, Jing-Qiong Kang
Publikováno v:
Cell Reports, Vol 17, Iss 12, Pp 3115-3124 (2016)
Reduced ocular pigmentation is common in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) and is long thought to be caused by OCA2 deletion. GABRB3 is located in the 15q11-13 region flanked by UBE3A, GABRA5, GABRG3, and OCA2. Mutations in GABRB
Externí odkaz:
https://doaj.org/article/9360cead1ab948aa8eee1fd9048e1591
Autor:
Scott J Myers, Hongjie Yuan, Jing-Qiong Kang, Francis Chee Kuan Tan, Stephen F Traynelis, Chian-Ming Low
Publikováno v:
F1000Research, Vol 8 (2019)
Rapid advances in sequencing technology have led to an explosive increase in the number of genetic variants identified in patients with neurological disease and have also enabled the assembly of a robust database of variants in healthy individuals. A
Externí odkaz:
https://doaj.org/article/01db0138bf5048dbb3442018b9248bcd
Autor:
Ann J. Johnston, Jing-Qiong Kang, Wangzhen Shen, William O. Pickrell, Thomas D. Cushion, Jeffrey S. Davies, Kristin Baer, Jonathan G.L. Mullins, Carrie L. Hammond, Seo-Kyung Chung, Rhys H. Thomas, Cathy White, Phil E.M. Smith, Robert L. Macdonald, Mark I. Rees
Publikováno v:
Neurobiology of Disease, Vol 64, Iss , Pp 131-141 (2014)
Genetic mutations in voltage-gated and ligand-gated ion channel genes have been identified in a small number of Mendelian families with genetic generalised epilepsies (GGEs). They are commonly associated with febrile seizures (FS), childhood absence
Externí odkaz:
https://doaj.org/article/dc9b7994a81047c3aaaafe890e39676e
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