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.
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
4.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Ann Neurol
; 94(2): 332-349, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37062836
5.
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
6.
Epilepsy phenotype and response to KCNQ openers in mice harboring the Kcnq2 R207W voltage-sensor mutation.
Neurobiol Dis
; 174: 105860, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36113748
7.
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
8.
KCNQ3 is the principal target of retigabine in CA1 and subicular excitatory neurons.
J Neurophysiol
; 125(4): 1440-1449, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33729829
9.
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Pflugers Arch
; 472(7): 881-898, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506321
10.
Neurobiology of coronaviruses: Potential relevance for COVID-19.
Neurobiol Dis
; 143: 105007, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32622086
11.
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
12.
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
Pharmacol Res
; 160: 105200, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32942014
13.
Cardiac safety of second-generation H1 -antihistamines when updosed in chronic spontaneous urticaria.
Clin Exp Allergy
; 49(12): 1615-1623, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31519068
14.
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
15.
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
16.
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
17.
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
18.
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
19.
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Epilepsia
; 58(3): 436-445, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28139826
20.
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