Nimodipine Reappraised: An Old Drug with a Future

por Carlson, Andrew P., Hänggi, Daniel, Macdonald, Robert L., Shuttleworth, Claude W.
Publicado 2020

The Human Epilepsy Mutation GABRG2(Q390X) Causes Chronic Subunit Accumulation and Neurodegeneration

por Kang, Jing-Qiong, Shen, Wangzhen, Zhou, Chengwen, Xu, Dong, Macdonald, Robert L.
Publicado 2015

Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity

por Wang, Juexin, Shen, Dingding, Xia, Geqing, Shen, Wangzhen, Macdonald, Robert L., Xu, Dong, Kang, Jing-Qiong
Publicado 2016

GABA(A) receptor β3 subunit mutation D120N causes Lennox–Gastaut syndrome in knock-in mice

por Qu, Shimian, Catron, Mackenzie, Zhou, Chengwen, Janve, Vaishali, Shen, Wangzhen, Howe, Rachel K, Macdonald, Robert L
Publicado 2020

The K328M substitution in the human GABA(A) receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice

por Qu, Shimian, Zhou, Chengwen, Howe, Rachel, Shen, Wangzhen, Huang, Xuan, Catron, Mackenzie, Hu, Ningning, Macdonald, Robert L.
Publicado 2021

Deleterious Rare Variants Reveal Risk for Loss of GABA(A) Receptor Function in Patients with Genetic Epilepsy and in the General Population

por Hernandez, Ciria C., Klassen, Tara L., Jackson, Laurel G., Gurba, Katharine, Hu, Ningning, Noebels, Jeffrey L., Macdonald, Robert L.
Publicado 2016

Correction: Deleterious Rare Variants Reveal Risk for Loss of GABA(A) Receptor Function in Patients with Genetic Epilepsy and in the General Population

por Hernandez, Ciria C., Klassen, Tara L., Jackson, Laurel G., Gurba, Katharine, Hu, Ningning, Noebels, Jeffrey L., Macdonald, Robert L.
Publicado 2016

The GABRG2 F343L allele causes spontaneous seizures in a novel transgenic zebrafish model that can be treated with suberanilohydroxamic acid (SAHA)

por Shen, Dingding, Chen, Juan, Liu, Dong, Shen, Mi, Wang, Xin, Wu, Youjia, Ke, Shuan, Macdonald, Robert L., Zhang, Qi
Publicado 2020

GABRG2 Variants Associated with Febrile Seizures

por Hernandez, Ciria C., Shen, Yanwen, Hu, Ningning, Shen, Wangzhen, Narayanan, Vinodh, Ramsey, Keri, He, Wen, Zou, Liping, Macdonald, Robert L.
Publicado 2023

Altered Channel Conductance States and Gating of GABA(A) Receptors by a Pore Mutation Linked to Dravet Syndrome

por Hernandez, Ciria C., Kong, Weijing, Hu, Ningning, Zhang, Yujia, Shen, Wangzhen, Jackson, Laurel, Liu, Xiaoyan, Jiang, Yuwu, Macdonald, Robert L.
Publicado 2017

GABA(A) Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

por Hernandez, Ciria C., Zhang, Yujia, Hu, Ningning, Shen, Dingding, Shen, Wangzhen, Liu, Xiaoyan, Kong, Weijing, Jiang, Yuwu, Macdonald, Robert L.
Publicado 2017

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

por Ishii, Atsushi, Kang, Jing-Qiong, Schornak, Cara C, Hernandez, Ciria C, Shen, Wangzhen, Watkins, Joseph C, Macdonald, Robert L, Hirose, Shinichi
Publicado 2017

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

por Delahanty, Ryan J., Kang, Jingqiong, Brune, Camille W., Kistner, Emily O., Courchesne, Eric, Cox, Nancy J., Cook, Edwin H., Macdonald, Robert L., Sutcliffe, James S.
Publicado 2009

Dravet syndrome-associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABA(A) receptors

por Hernandez, Ciria C, Tian, XiaoJuan, Hu, Ningning, Shen, Wangzhen, Catron, Mackenzie A, Yang, Ying, Chen, Jiaoyang, Jiang, Yuwu, Zhang, Yuehua, Macdonald, Robert L
Publicado 2021

Sleep slow-wave oscillations trigger seizures in a genetic epilepsy model of Dravet syndrome

por Catron, Mackenzie A, Howe, Rachel K, Besing, Gai-Linn K, St. John, Emily K, Potesta, Cobie Victoria, Gallagher, Martin J, Macdonald, Robert L, Zhou, Chengwen
Publicado 2022

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

por Mukherjee, Souhrid, Cassini, Thomas A., Hu, Ningning, Yang, Tao, Li, Bian, Shen, Wangzhen, Moth, Christopher W., Rinker, David C., Sheehan, Jonathan H., Cogan, Joy D., Newman, John H., Hamid, Rizwan, Macdonald, Robert L., Roden, Dan M., Meiler, Jens, Kuenze, Georg, Phillips, John A., Capra, John A.
Publicado 2022