RobertL.MacDonaldMDPhD

PubMed

• Epileptic EncephalopathyStructural Variants Share Common Gating and Trafficking Defects.
  Hernandez, C., Hu, N., Shen, W., Macdonald, R.> ;Biomolecules. 2023 Dec 14
• 3 citations
  Variants Associated with Febrile Seizures.
  Ciria C Hernandez, Yanwen Shen, Ningning Hu, Wangzhen Shen, Vinodh Narayanan, Keri Ramsey, Wen He, Liping Zou, Robert L Macdonald> ;Biomolecules. 2023 Feb 22
• 2 citations
  Sleep slow-wave oscillations trigger seizures in a genetic epilepsy model of Dravet syndrome.
  Mackenzie A Catron, Rachel K Howe, Gai-Linn K Besing, Emily K St John, Cobie Victoria Potesta, Martin J Gallagher, Robert L Macdonald, Chengwen Zhou> ;Brain Communications. 2023 Jan 1
• 2 citations
  Heterozygous GABAreceptor β3 subunit N110D knock-in mice have epileptic spasms.
  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...> ;Epilepsia. 2023 Apr 1
• 19 citations
  Dravet syndrome-associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABAA receptors.
  Ciria C. Hernandez, Xiaojuan Tian, Ningning Hu, Wangzhen Shen, Mackenzie A. Catron, Ying Yang, Jiaoyang Chen, Yuwu Jiang, Yuehua Zhang, Robert L. Macdonald> ;Brain Communications. 2021 Mar 11
• 5 citations
  The K328M substitution in the human GABA A receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice
  Shimian Qu, Chengwen Zhou, Rachel Howe, Wangzhen Shen, Xuan Huang, Mackenzie A. Catron, Ningning Hu, Robert L. Macdonald> ;Neurobiology of Disease. 2021 Feb 11
• 5 citations
  Impaired State-Dependent Potentiation of GABAergic Synaptic Currents Triggers Seizures in a Genetic Generalized Epilepsy Model
  Chun-Qing Zhang, Mackenzie A Catron, Li Ding, Caitlyn M. Hanna, Martin J. Gallagher, Robert L. Macdonald, Chengwen Zhou> ;Cerebral Cortex. 2021 Jan 5
• 7 citations
  The GABRG2 F343L allele causes spontaneous seizures in a novel transgenic zebrafish model that can be treated with suberanilohydroxamic acid (SAHA)
  Dingding Shen, Chen Juan, Liu Dong, Mi Shen, Xin Wang, Youjia Wu, Ke Shu'an, Robert L. Macdonald, Qi Zhang> ;Annals of Translational Medicine. 2020 Dec 7
• 6 citations
  Endoplasmic reticulum stress increases inflammatory cytokines in an epilepsy mouse model Gabrg2+/Q390X knockin: A link between genetic and acquired epilepsy?
  Wangzhen Shen, Sarah Poliquin, Robert L. Macdonald, Marco Dong, Jing-Qiong Kang> ;Epilepsia. 2020 Sep 17
• 10 citations
  GABAA receptor β3 subunit mutation D120N causes Lennox-Gastaut syndrome in knock-in mice.
  Shimian Qu, Mackenzie A. Catron, Chengwen Zhou, Vaishali S. Janve, Wangzhen Shen, Rachel K Howe, Robert L. Macdonald> ;Brain Communications. 2020 Jan 1
• 48 citations
  Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
  Yi-Wu Shi, Qi Zhang, Kefu Cai, Sarah Poliquin, Wangzhen Shen, Nathan Winters, Yong-Hong Yi, Jie Wang, Ningning Hu, Robert L. Macdonald, Wei-Ping Liao, Jing-Qiong Kang> ;Brain. 2019 Oct 1
• 54 citations
  A structural look at GABAA receptor mutations linked to epilepsy syndromes.
  Ciria C. Hernandez, Robert L. Macdonald> ;Brain Research. 2019 Jul 1
• 26 citations
  Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
  Ciria C. Hernandez, Wenshu XiangWei, Ningning Hu, Dingding Shen, Wangzhen Shen, Andre H. Lagrange, Yujia Zhang, Lifang Dai, Changhong Ding, Zhaohui Sun, Jiasheng Hu, H...> ;Brain. 2019 Jul 1
• 8 citations
  Molecular basis for and chemogenetic modulation of comorbidities in GABRG2-deficient epilepsies
  Chun-Qing Zhang, Bryan McMahon, Huancheng Dong, Timothy A. Warner, Wangzhen Shen, Martin J. Gallagher, Robert L. Macdonald, Jing-Qiong Kang> ;Epilepsia. 2019 May 14
• 13 citations
  GABA beyond the synapse: defining the subtype-specific pharmacodynamics of non-synaptic GABAA receptors.
  Andre H. Lagrange, Ningning Hu, Robert L. Macdonald> ;The Journal of Physiology. 2018 Sep 1
• 2 citations
  Whole exome sequencing reveals novel NOV and DCAF13 variants in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy.
  Hua Lin, Ningning Hu, Yanfeng Zhang, Yuping Wang, Robert L. Macdonald> ;Neuroscience Letters. 2018 Jul 9
• 10 citations
  Single Quantum Dot Tracking Reveals Serotonin Transporter Diffusion Dynamics Are Correlated With Cholesterol-Sensitive Threonine 276 Phosphorylation Status in Primary ...
  Danielle M. Bailey, Mackenzie A Catron, Oleg Kovtun, Robert L. Macdonald, Qi Zhang, Sandra J. Rosenthal> ;ACS Chemical Neuroscience. 2018 May 22
• 9 citations
  A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors.
  Chen-Hung Wang, Ciria C. Hernandez, Junyi Wu, Ning Zhou, Hsin-Yu Hsu, Mei Lin Shen, Yi-Ching Wang, Robert L. Macdonald, Dong Chuan Wu> ;The Journal of Neuroscience. 2018 Feb 13
• 24 citations
  GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.
  Ciria C. Hernandez, Yujia Zhang, Ningning Hu, Dingding Shen, Wangzhen Shen, Xiaoyan Liu, Weijing Kong, Yuwu Jiang, Robert L. Macdonald> ;Scientific Reports. 2017 Nov 21
• 15 citations
  Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice.
  Timothy A. Warner, Zhong Liu, Robert L. Macdonald, Jing-Qiong Kang> ;Epilepsy Research. 2017 Aug 1
• 17 citations
  Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice.
  Xuan Huang, Chengwen Zhou, Mengnan Tian, Jing-Qiong Kang, Wangzhen Shen, Kelienne Verdier, Aurea Pimenta, Robert L. Macdonald> ;Epilepsia. 2017 Jun 6
• 41 citations
  A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy
  Atsushi Ishii, Jing-Qiong Kang, Cara C. Schornak, Ciria C. Hernandez, Wangzhen Shen, Joseph C. Watkins, Robert L. Macdonald, Shinichi Hirose> ;Journal of Medical Genetics. 2017 Mar 1
• 67 citations
  De novo GABRG2 mutations associated with epileptic encephalopathies
  Dingding Shen, Ciria C. Hernandez, Wangzhen Shen, Ningning Hu, Annapurna Poduri, Beth Shiedley, Alex Rotenberg, Alexandre N. Datta, Steffen Leiz, Steffi Patzer, Rainer...> ;Brain. 2017 Jan 1
• 23 citations
  Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome
  Ciria C. Hernandez, Weijing Kong, Ningning Hu, Yujia Zhang, Wangzhen Shen, Laurel G. Jackson, Xiaoyan Liu, Yuwu Jiang, Robert L. Macdonald> ;Eneuro. 2017 Jan 1
• 10 citations
  Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.
  Ryan J. Delahanty, Yanfeng Zhang, Terry Jo Bichell, Wangzhen Shen, Kelienne Verdier, Robert L. Macdonald, Lili Xu, Kelli L. Boyd, Janice Williams, Jing-Qiong Kang> ;Cell Reports. 2016 Dec 20
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