Results 151 to 160 of about 5,101 (164)

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

EBioMedicine, 2022
Tristan T Sands, Gaetan Lesca, Julitta de Bellescize   +2 more
exaly  

Disruption of the Epilepsy KCNQ2 Gene Results in Neural Hyperexcitability

Journal of Neurochemistry, 2000
Motonao Nakamura, Eiichiro Nagata, Hajime Watanabe   +2 more
exaly  

Effect of total callosotomy on KCNQ2-related intractable epilepsy

Brain and Development, 2020
Yoshihiro Watanabe, Saoko Takeshita
exaly  

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

Epilepsia, 2013
Mitsuhiro Kato, Shelly K Weiss, Takanori Yamagata   +2 more
exaly  

Channel-anchored Protein Kinase CK2 and Protein Phosphatase 1 Reciprocally Regulate KCNQ2-containing M-channels via Phosphorylation of Calmodulin*

Journal of Biological Chemistry, 2014
Naoto Hoshi, Seungwoo Kang, Edward Cooper   +2 more
exaly  

Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

Human Mutation, 2014
Gaetan Lesca, Mathieu Milh, Maria Virginia Soldovieri   +2 more
exaly  

KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype

Journal of Child Neurology, 2017
Inn-Chi Lee, Jao-Shwann Liang, Jiann-Jou Yang   +2 more
exaly  

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

Brain, 2003
Michael C Sanguinetti, Peter Westenskow, Carole Charlier   +2 more
exaly  

Discovery, Synthesis, and Structure–Activity Relationship of a Series of N-Aryl-bicyclo[2.2.1]heptane-2-carboxamides: Characterization of ML213 as a Novel KCNQ2 and KCNQ4 Potassium Channel Opener

ACS Chemical Neuroscience, 2011
Steven D. Townsend, Haibo Yu, Craig W. Lindsley   +2 more
exaly  

Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality

Brain and Development, 2023
exaly