A Carboxy-terminal Inter-Helix Linker As the Site of Phosphatidylinositol 4,5-Bisphosphate Action on Kv7 (M-type) K(+) Channels

por Hernandez, Ciria C., Zaika, Oleg, Shapiro, Mark S.
Publicado 2008

Affinity for phosphatidylinositol 4,5-bisphosphate determines muscarinic agonist sensitivity of Kv7 K(+) channels

por Hernandez, Ciria C., Falkenburger, Björn, Shapiro, Mark S.
Publicado 2009

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

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

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