Zobrazeno 1 - 10
of 360
pro vyhledávání: '"Robert L. Macdonald"'
Publikováno v:
Biomolecules, Vol 13, Iss 12, p 1790 (2023)
Variants in the GABRB gene, which encodes the β subunit of the GABAA receptor, have been implicated in various epileptic encephalopathies and related neurodevelopmental disorders such as Dravet syndrome and Angelman syndrome. These conditions are of
Externí odkaz:
https://doaj.org/article/9a0837e3da4f4e31a92284985a43ac8f
Autor:
Souhrid Mukherjee, Thomas A. Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen, Christopher W. Moth, David C. Rinker, Jonathan H. Sheehan, Joy D. Cogan, John H. Newman, Rizwan Hamid, Robert L. Macdonald, Dan M. Roden, Jens Meiler, Georg Kuenze, John A. Phillips, John A. Capra
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100131- (2022)
Summary: Whole-exome sequencing (WES) in the clinic has identified several rare monogenic developmental and epileptic encephalopathies (DEE) caused by ion channel variants. However, WES often fails to provide actionable insight for rare diseases, suc
Externí odkaz:
https://doaj.org/article/80f15d97adae43d6b743ecd6b1a9570f
Autor:
Ciria C. Hernandez, Yanwen Shen, Ningning Hu, Wangzhen Shen, Vinodh Narayanan, Keri Ramsey, Wen He, Liping Zou, Robert L. Macdonald
Publikováno v:
Biomolecules, Vol 13, Iss 3, p 414 (2023)
Febrile seizures (FS) are the most common form of epilepsy in children between six months and five years of age. FS is a self-limited type of fever-related seizure. However, complicated prolonged FS can lead to complex partial epilepsy. We found that
Externí odkaz:
https://doaj.org/article/271466ba61d9486ca7466edf78a88a4b
Autor:
Shimian Qu, Chengwen Zhou, Rachel Howe, Wangzhen Shen, Xuan Huang, Mackenzie Catron, Ningning Hu, Robert L. Macdonald
Publikováno v:
Neurobiology of Disease, Vol 152, Iss , Pp 105296- (2021)
Externí odkaz:
https://doaj.org/article/2fa6179ab74a4364a0742dd877e8a641
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:
Emily Todd, Katharine N. Gurba, Emmanuel J. Botzolakis, Aleksandar K. Stanic, Robert L. Macdonald
Publikováno v:
Neurobiology of Disease, Vol 69, Iss , Pp 215-224 (2014)
A missense mutation in the GABAA receptor γ2L subunit, R177G, was reported in a family with complex febrile seizures (FS). To gain insight into the mechanistic basis for these genetic seizures, we explored how the R177G mutation altered the properti
Externí odkaz:
https://doaj.org/article/95f7705f429f46698ce8387696e9d65d
Publikováno v:
Neurobiology of Disease, Vol 68, Iss , Pp 167-179 (2014)
We compared the effects of three missense mutations in the GABAA receptor γ2 subunit on GABAA receptor assembly, trafficking and function in HEK293T cells cotransfected with α1, β2, and wildtype or mutant γ2 subunits. The mutations R82Q and P83S
Externí odkaz:
https://doaj.org/article/e7134dabba8840d394e0f5edb5592d64
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:
Mengnan Tian, Davide Mei, Elena Freri, Ciria C. Hernandez, Tiziana Granata, Wangzhen Shen, Robert L. Macdonald, Renzo Guerrini
Publikováno v:
Neurobiology of Disease, Vol 50, Iss , Pp 135-141 (2013)
The purpose of the study was to explore the pathogenic mechanisms underlying generalized epilepsy and febrile seizures plus (GEFS+) in a family with a novel γ2 subunit gene (GABRG2) frameshift mutation. Four affected and one unaffected individuals c
Externí odkaz:
https://doaj.org/article/265e8c315cf348fda57d84d8e8e829ce
Publikováno v:
Neurobiology of Disease, Vol 48, Iss 1, Pp 115-123 (2012)
The GABRG2 nonsense mutation, Q40X, is associated with the severe epilepsy syndrome, Dravet syndrome, and is predicted to generate a premature translation–termination codon (PTC) in the GABAA receptor γ2 subunit mRNA in a position that codes for t
Externí odkaz:
https://doaj.org/article/c239409f51334ebdb67e3863cbe419b9