Results 11 to 20 of about 5,101 (164)

Selective interaction of syntaxin 1A with KCNQ2: possible implications for specific modulation of presynaptic activity. [PDF]

PLoS ONE, 2009
KCNQ2/KCNQ3 channels are the molecular correlates of the neuronal M-channels, which play a major role in the control of neuronal excitability. Notably, they differ from homomeric KCNQ2 channels in their distribution pattern within neurons, with unique ...
Noa Regev, Nurit Degani-Katzav, Alon Korngreen, Adi Etzioni, Sivan Siloni, Alessandro Alaimo, Dodo Chikvashvili, Alvaro Villarroel, Bernard Attali, Ilana Lotan   +9 more
doaj   +3 more sources

Effects of KCNQ2 gene truncation on M-type Kv7 potassium currents.

PLoS ONE, 2013
The KCNQ2 gene product, Kv7.2, is a subunit of the M-channel, a low-threshold voltage-gated K(+) channel that regulates mammalian and human neuronal excitability. Spontaneous mutations one of the KCNQ2 genes cause disorders of neural excitability such as
Jon Robbins, Gayle M Passmore, Fe C Abogadie, Joanne M Reilly, David A Brown   +4 more
doaj   +3 more sources

Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy [PDF]

eLife
KCNQ2 variants in children with neurodevelopmental impairment are difficult to assess due to their heterogeneity and unclear pathogenic mechanisms. We describe a child with neonatal-onset epilepsy, developmental impairment of intermediate severity, and ...
Timothy J Abreo, Emma C Thompson, Anuraag Madabushi, Kristen L Park, Heun Soh, Nissi Varghese, Carlos G Vanoye, Kristen Springer, Jim Johnson, Scotty Sims, Zhigang Ji, Ana G Chavez, Miranda J Jankovic, Bereket Habte, Aamir R Zuberi, Cathleen M Lutz, Zhao Wang, Vaishnav Krishnan, Lisa Dudler, Stephanie Einsele-Scholz, Jeffrey L Noebels, Alfred L George, Atul Maheshwari, Anastasios Tzingounis, Edward C Cooper   +24 more
doaj   +2 more sources

Severe neonatal epileptic encephalopathy and KCNQ2 mutation: neuropathological substrate? [PDF]

Frontiers in Pediatrics, 2014
Background:Neonatal convulsions are clinical manifestations in a heterogeneous group of disorders with different etiology and outcome. They are attributed to several genetic causes.
Charlotte eDalen Meurs-Van Der Schoor
doaj   +3 more sources

KCNQ2 channels regulate the population activity of neonatal GABAergic neurons ex vivo

Frontiers in Neurology, 2023
Over the last decade KCNQ2 channels have arisen as fundamental and indispensable regulators of neonatal brain excitability, with KCNQ2 loss-of-function pathogenic variants being increasingly identified in patients with developmental and epileptic ...
Bowen Hou, Sabato Santaniello, Anastasios V. Tzingounis, Anastasios V. Tzingounis   +3 more
doaj   +1 more source

KCNQ2 Encephalopathy Showing a Distinct Ictal Amplitude-Integrated Electroencephalographic Pattern [PDF]

Neonatal Medicine, 2020
KCNQ2 mutations induce a neonatal-onset epileptic encephalopathy of widely varying severity, ranging from benign familial neonatal epilepsy to severe refractory epileptic encephalopathy.
Naeun Kwak, Yun Jeong Lee, Dongsub Kim, Su-Kyeong Hwang, Soonhak Kwon, Eun Joo Lee   +5 more
doaj   +1 more source

Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy. [PDF]

J Neurosci
KCNQ2 potassium channel variants are linked to developmental and epileptic encephalopathy (DEE). However, the mechanisms by which pathogenic variants, especially those outside known hotspots, such as the S4-S5 linker, lead to disease remain unknown. Here,
Springer K, Soh H, Paz Zavala R, Varghese N, Lutz C, Zuberi AR, Jackson AC, Tzingounis AV.   +7 more
europepmc   +2 more sources

Epilepsy phenotype and response to KCNQ openers in mice harboring the Kcnq2 R207W voltage-sensor mutation

Neurobiology of Disease, 2022
KCNQ2-encoded Kv7.2 subunits play a critical role in balancing neuronal excitability. Mutations in KCNQ2 are responsible for highly-heterogenous epileptic and neurodevelopmental phenotypes ranging from self-limited familial neonatal epilepsy (SeLFNE) to ...
Fuyun Tian, Birong Cao, Haiyan Xu, Li Zhan, Fajun Nan, Ning Li, Maurizio Taglialatela, Zhaobing Gao   +7 more
doaj   +1 more source

Phox2b-expressing neurons contribute to breathing problems in Kcnq2 loss- and gain-of-function encephalopathy models

Nature Communications, 2023
Loss- and gain-of-function variants in the gene encoding KCNQ2 channels are a common cause of developmental and epileptic encephalopathy, a condition characterized by seizures, developmental delays, breathing problems, and early mortality.
J. Soto-Perez, C. M. Cleary, C. R. Sobrinho, S. B. Mulkey, J. L. Carroll, A. V. Tzingounis, D. K. Mulkey   +6 more
doaj   +1 more source

Ligand activation mechanisms of human KCNQ2 channel

Nature Communications, 2023
The human voltage-gated potassium channel KCNQ2/KCNQ3 carries the neuronal M-current, which helps to stabilize the membrane potential. KCNQ2 can be activated by analgesics and antiepileptic drugs but their activation mechanisms remain unclear.
Demin Ma, Yueming Zheng, Xiaoxiao Li, Xiaoyu Zhou, Zhenni Yang, Yan Zhang, Long Wang, Wenbo Zhang, Jiajia Fang, Guohua Zhao, Panpan Hou, Fajun Nan, Wei Yang, Nannan Su, Zhaobing Gao, Jiangtao Guo   +15 more
doaj   +1 more source