Detalhe da pesquisa
1.
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
Ann Neurol
; 95(2): 365-376, 2024 Feb.
Artigo
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
Inglês
| MEDLINE | ID: mdl-35377796
3.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Ann Neurol
; 94(2): 332-349, 2023 08.
Artigo
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
Inglês
| MEDLINE | ID: mdl-37203213
5.
Biophysical Determinants for the Viscosity of Concentrated Monoclonal Antibody Solutions.
Mol Pharm
; 20(9): 4698-4713, 2023 09 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37549226
6.
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
Pharmacol Res
; 160: 105200, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32942014
7.
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
Inglês
| MEDLINE | ID: mdl-29740868
8.
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
Inglês
| MEDLINE | ID: mdl-31487785
9.
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
Inglês
| MEDLINE | ID: mdl-31295832
10.
Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy.
Mol Cell Neurosci
; 72: 54-63, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26784557
11.
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
Inglês
| MEDLINE | ID: mdl-26073431
12.
Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.
Front Cell Neurosci
; 18: 1367838, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38644974
13.
In Silico Assisted Identification, Synthesis, and In Vitro Pharmacological Characterization of Potent and Selective Blockers of the Epilepsy-Associated KCNT1 Channel.
J Med Chem
; 67(11): 9124-9149, 2024 Jun 13.
Artigo
Inglês
| MEDLINE | ID: mdl-38782404
14.
A five-year (2017-2021) time series evaluation of patient-reported informal healthcare payments in Romania.
J Med Life
; 16(3): 387-393, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-37168305
15.
Effect of linguistic framing and information provision on attitudes towards induced seismicity and seismicity regulation.
Sci Rep
; 12(1): 11239, 2022 07 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35788650
16.
Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes.
Front Pharmacol
; 13: 872645, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35770094
17.
Kv7.4 channels regulate potassium permeability in neuronal mitochondria.
Biochem Pharmacol
; 197: 114931, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35085542
18.
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
EBioMedicine
; 81: 104130, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-35780567
19.
Calcium cytotoxicity sensitizes prostate cancer cells to standard-of-care treatments for locally advanced tumors.
Cell Death Dis
; 11(12): 1039, 2020 12 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33288740
20.
Choice determinants of the mobility in the Dutch health insurance market.
Eur J Health Econ
; 9(3): 261-4, 2008 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-17851703