Detalhe da pesquisa
1.
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
Ann Neurol
; 95(2): 365-376, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964487
2.
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
3.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Ann Neurol
; 94(2): 332-349, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37062836
4.
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
Epilepsia
; 64(7): e148-e155, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37203213
5.
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
6.
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Pflugers Arch
; 472(7): 881-898, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506321
7.
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
8.
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
Pharmacol Res
; 160: 105200, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32942014
9.
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
Ann Neurol
; 83(6): 1198-1204, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740868
10.
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
11.
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
12.
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
13.
Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy.
Mol Cell Neurosci
; 72: 54-63, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26784557
14.
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
15.
ß-Adrenergic response is counteracted by extremely-low-frequency pulsed electromagnetic fields in beating cardiomyocytes.
J Mol Cell Cardiol
; 98: 146-58, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27418252
16.
Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin.
Biochim Biophys Acta
; 1852(9): 1856-66, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26073431
17.
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
18.
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
19.
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
20.
Functional and biochemical interaction between PPARα receptors and TRPV1 channels: Potential role in PPARα agonists-mediated analgesia.
Pharmacol Res
; 87: 113-22, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25014183