Detalhe da pesquisa
1.
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Proc Natl Acad Sci U S A
; 119(15): e2116887119, 2022 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35377796
2.
Kv7 channel activation reduces brain endothelial cell permeability and prevents kainic acid-induced blood-brain barrier damage.
Am J Physiol Cell Physiol
; 326(3): C893-C904, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38284124
3.
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants.
Epilepsia
; 63(1): e7-e14, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34778950
4.
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Pflugers Arch
; 472(7): 881-898, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506321
5.
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Ann Neurol
; 86(2): 181-192, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177578
6.
Cytokine storm in aged people with CoV-2: possible role of vitamins as therapy or preventive strategy.
Aging Clin Exp Res
; 32(10): 2115-2131, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32865757
7.
Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs.
J Peripher Nerv Syst
; 24(4): 330-339, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31707753
8.
Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features.
Int J Mol Sci
; 20(14)2019 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31295832
9.
Activation of Kv7 Potassium Channels Inhibits Intracellular Ca2+ Increases Triggered By TRPV1-Mediated Pain-Inducing Stimuli in F11 Immortalized Sensory Neurons.
Int J Mol Sci
; 20(18)2019 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31487785
10.
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
Epilepsia
; 58(1): e10-e15, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27861786
11.
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.
J Neurosci
; 35(9): 3782-93, 2015 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25740509
12.
Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.
Proc Natl Acad Sci U S A
; 110(11): 4386-91, 2013 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-23440208
13.
IKs channels open slowly because KCNE1 accessory subunits slow the movement of S4 voltage sensors in KCNQ1 pore-forming subunits.
Proc Natl Acad Sci U S A
; 110(7): E559-66, 2013 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-23359697
14.
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.
Epilepsia
; 56(2): e15-20, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25524373
15.
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.
Hum Mutat
; 35(3): 356-67, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375629
16.
Critical role of large-conductance calcium- and voltage-activated potassium channels in leptin-induced neuroprotection of N-methyl-d-aspartate-exposed cortical neurons.
Pharmacol Res
; 87: 80-6, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24973659
17.
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.
Neurotherapeutics
; 21(1): e00296, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38241158
18.
In Silico Assisted Identification, Synthesis, and In Vitro Pharmacological Characterization of Potent and Selective Blockers of the Epilepsy-Associated KCNT1 Channel.
J Med Chem
; 2024 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38782404
19.
Subtype-selective activation of K(v)7 channels by AaTXKß2â64, a novel toxin variant from the Androctonus australis scorpion venom.
Mol Pharmacol
; 84(5): 763-73, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24019223
20.
Gating currents from Kv7 channels carrying neuronal hyperexcitability mutations in the voltage-sensing domain.
Biophys J
; 102(6): 1372-82, 2012 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-22455920