Results 31 to 40 of about 5,101 (164)

Table_1_Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders.DOCX

, 2022
BackgroundKCNQ2-related disorder is typically characterized as neonatal onset seizure and epileptic encephalopathy. The relationship between its phenotype and genotype is still elusive.
Xinran Dong (464365), Liping Chen (119540), Deyi Zhuang (8449206), Huiyao Chen (7378727), Yuanfeng Zhou (6695024), Huijun Wang (288634), Lin Yang (45852), Long Li (6555), Yan Xu (14594), Dongmei Chen (124974), Tiantian Xiao (10582940), Wenhao Zhou (2855447), Xiang Chen (10398), Bingbing Wu (3608228)   +13 more
core   +1 more source

Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels

eLife, 2022
Neuronal KCNQ channels mediate the M-current, a key regulator of membrane excitability in the central and peripheral nervous systems. Mutations in KCNQ2 channels cause severe neurodevelopmental disorders, including epileptic encephalopathies.
Michaela A Edmond, Andy Hinojo-Perez, Xiaoan Wu, Marta E Perez Rodriguez, Rene Barro-Soria   +4 more
doaj   +1 more source

A KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in Taiwan

Journal of the Formosan Medical Association, 2017
Pediatric epilepsy caused by a KCNQ2 gene mutation usually manifests as benign familial neonatal seizures (BFNS) during the 1st week of life. However, the exact mechanism, phenotype, and genotype of the KCNQ2 mutation are unclear. Methods: We studied the
Inn-Chi Lee, Jiann-Jou Yang, Shuan-Yow Li   +2 more
doaj   +1 more source

KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series

Molecular Genetics & Genomic Medicine, 2019
Background Epilepsy caused by a KCNQ2 gene mutation usually manifests as neonatal seizures during the first week of life. The genotypes and phenotypes of KCNQ2 mutations are noteworthy.
Inn‐Chi Lee, Tung‐Ming Chang, Jao‐Shwann Liang, Shuan‐Yow Li   +3 more
doaj   +1 more source

Extending the KCNQ2 encephalopathy spectrum : clinical and neuroimaging findings in 17 patients

, 2013
: Objectives: To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic encephalopathy (NEE), and to expand the phenotypic spectrum of KCNQ2 epileptic encephalopathy.
Suls, Arvid, Weckhuysen, Sarah, Ceulemans, Berten, De Jonghe, Peter, Ivanovic, Vanja, et al.   +5 more
core   +2 more sources

Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report

Pediatric Reports, 2022
The KCNQ2 gene, encoding for the Kv7.2 subunits of the Kv7 voltage potassium channel, is involved in the modulation of neuronal excitability and plays a crucial role in brain morphogenesis and maturation during embryonic life.
Martina Siracusano, Claudia Marcovecchio, Assia Riccioni, Caterina Dante, Luigi Mazzone   +4 more
doaj   +1 more source

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

JCI Insight, 2022
Hundreds of genetic variants in KCNQ2 encoding the voltage-gated potassium channel KV7.2 are associated with early onset epilepsy and/or developmental disability, but the functional consequences of most variants are unknown.
Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L. Helbig, Dianalee McKnight, Amanda S. Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George Jr.   +14 more
doaj   +1 more source

The Role of Kv7.2 in Neurodevelopment: Insights and Gaps in Our Understanding

Frontiers in Physiology, 2020
Kv7.2 subunits encoded by the KCNQ2 gene constitute a critical molecular component of the M-current, a subthreshold voltage-gated potassium current controlling neuronal excitability by dampening repetitive action potential firing.
Nina Dirkx, Francesco Miceli, Maurizio Taglialatela, Sarah Weckhuysen, Sarah Weckhuysen, Sarah Weckhuysen   +5 more
doaj   +1 more source

Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations. [PDF]

PLoS ONE, 2016
The hetero-tetrameric voltage-gated potassium channel Kv7.2/Kv7.3, which is encoded by KCNQ2 and KCNQ3, plays an important role in limiting network excitability in the neonatal brain.
Yukiko Ihara, Yuko Tomonoh, Masanobu Deshimaru, Bo Zhang, Taku Uchida, Atsushi Ishii, Shinichi Hirose   +6 more
doaj   +1 more source

Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders

Frontiers in Molecular Neuroscience, 2022
BackgroundKCNQ2-related disorder is typically characterized as neonatal onset seizure and epileptic encephalopathy. The relationship between its phenotype and genotype is still elusive.
Tiantian Xiao, Xiang Chen, Yan Xu, Huiyao Chen, Xinran Dong, Lin Yang, Bingbing Wu, Liping Chen, Long Li, Deyi Zhuang, Dongmei Chen, Yuanfeng Zhou, Huijun Wang, Wenhao Zhou, Wenhao Zhou   +14 more
doaj   +1 more source