scholarly article | Q13442814 |
P50 | author | Beth Kline-Fath | Q86742309 |
Maria Virginia Soldovieri | Q41669721 | ||
P2093 | author name string | Edward C Cooper | |
Paolo Ambrosino | |||
Maurizio Taglialatela | |||
Charu Venkatesan | |||
Ilaria Mosca | |||
Francesco Miceli | |||
Lorella Maria Teresa Canzoniero | |||
Cristina Franco | |||
P2860 | cites work | KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel | Q22008501 |
A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon | Q24307090 | ||
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns | Q24319094 | ||
A potassium channel mutation in neonatal human epilepsy | Q24320244 | ||
Structural insight into KCNQ (Kv7) channel assembly and channelopathy | Q24619681 | ||
Driving with no brakes: molecular pathophysiology of Kv7 potassium channels | Q27023978 | ||
Atomic structure of a voltage-dependent K+ channel in a lipid membrane-like environment | Q27649044 | ||
The identification and characterization of a noncontinuous calmodulin-binding site in noninactivating voltage-dependent KCNQ potassium channels | Q28198311 | ||
Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels | Q28215165 | ||
Structural determinants of M-type KCNQ (Kv7) K+ channel assembly. | Q50650720 | ||
Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin. | Q51742552 | ||
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. | Q51750711 | ||
Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions. | Q51968139 | ||
I Ks ion-channel pore conductance can result from individual voltage sensor movements | Q92658083 | ||
Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy | Q93384353 | ||
Determination of the subunit stoichiometry of a voltage-activated potassium channel | Q28270398 | ||
The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3 | Q28289632 | ||
Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations | Q28550367 | ||
AKAP150 signaling complex promotes suppression of the M-current by muscarinic agonists | Q28574598 | ||
Stoichiometry of expressed KCNQ2/KCNQ3 potassium channels and subunit composition of native ganglionic M channels deduced from block by tetraethylammonium | Q28579627 | ||
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients | Q30555468 | ||
Advantages and limitations of brain imaging methods in the research of absence epilepsy in humans and animal models | Q30576866 | ||
Selective interaction of syntaxin 1A with KCNQ2: possible implications for specific modulation of presynaptic activity | Q33493069 | ||
State-dependent electrostatic interactions of S4 arginines with E1 in S2 during Kv7.1 activation | Q33922794 | ||
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
Capturing distinct KCNQ2 channel resting states by metal ion bridges in the voltage-sensor domain | Q34566675 | ||
Oxidative modification of M-type K(+) channels as a mechanism of cytoprotective neuronal silencing | Q35102221 | ||
Gating currents from Kv7 channels carrying neuronal hyperexcitability mutations in the voltage-sensing domain. | Q35843838 | ||
Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits | Q36692887 | ||
Gating consequences of charge neutralization of arginine residues in the S4 segment of K(v)7.2, an epilepsy-linked K+ channel subunit | Q36838876 | ||
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients | Q37197859 | ||
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis | Q37411003 | ||
Differential Regulation of PI(4,5)P2 Sensitivity of Kv7.2 and Kv7.3 Channels by Calmodulin. | Q38784550 | ||
The Kv7.2/Kv7.3 heterotetramer assembles with a random subunit arrangement | Q39396477 | ||
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations. | Q39480524 | ||
Early and effective treatment of KCNQ2 encephalopathy. | Q41062950 | ||
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. | Q41294377 | ||
Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate. | Q41895295 | ||
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. | Q42501055 | ||
M channel KCNQ2 subunits are localized to key sites for control of neuronal network oscillations and synchronization in mouse brain. | Q42513993 | ||
KCNQ1 channels do not undergo concerted but sequential gating transitions in both the absence and the presence of KCNE1 protein | Q42520564 | ||
Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures | Q42616862 | ||
Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. | Q42619127 | ||
Mechanism of voltage gating in potassium channels | Q42644041 | ||
PIP(2) activates KCNQ channels, and its hydrolysis underlies receptor-mediated inhibition of M currents | Q44386912 | ||
Rapid and safe response to low-dose carbamazepine in neonatal epilepsy | Q45092717 | ||
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant | Q47136304 | ||
Pharmacological Targeting Of Neuronal Kv7.2/3 Channels: A Focus On Chemotypes And Receptor Sites | Q47902267 | ||
Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies | Q48190846 | ||
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. | Q48612999 | ||
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway | Q48647760 | ||
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13. | Q48656390 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 14 | |
P577 | publication date | 2019-07-10 | |
P1433 | published in | International Journal of Molecular Sciences | Q3153277 |
P1476 | title | Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features | |
P478 | volume | 20 |
Q97522071 | Intellectual Disability and Potassium Channelopathies: A Systematic Review | cites work | P2860 |
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