Detalhe da pesquisa
1.
A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction.
Proc Natl Acad Sci U S A
; 121(3): e2307776121, 2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38194456
2.
Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy.
Brain
; 147(4): 1247-1263, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935051
3.
SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.
Epilepsia
; 64(5): 1318-1330, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36287100
4.
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Ann Neurol
; 88(2): 348-362, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32515017
5.
Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies.
Int J Mol Sci
; 21(14)2020 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32709127
6.
Mutant voltage-gated Na+ channels can exert a dominant negative effect through coupled gating.
Am J Physiol Heart Circ Physiol
; 315(5): H1250-H1257, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30118344
7.
Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy.
Cell Rep Med
; 5(2): 101389, 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38266642
8.
A KCNC1-related neurological disorder due to gain of Kv3.1 function.
Ann Clin Transl Neurol
; 10(1): 111-117, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36419348
9.
Trafficking and Gating Cooperation Between Deficient Nav1.5-mutant Channels to Rescue INa.
Front Biosci (Landmark Ed)
; 27(7): 209, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35866404
10.
Distinct Features of Probands With Early Repolarization and Brugada Syndromes Carrying SCN5A Pathogenic Variants.
J Am Coll Cardiol
; 78(16): 1603-1617, 2021 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34649698
11.
Acacetin suppresses the electrocardiographic and arrhythmic manifestations of the J wave syndromes.
PLoS One
; 15(11): e0242747, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232375
12.
Mutations in NaV1.5 Reveal Calcium-Calmodulin Regulation of Sodium Channel.
Front Physiol
; 10: 700, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231243
13.
The voltage-gated sodium channel pore exhibits conformational flexibility during slow inactivation.
J Gen Physiol
; 150(9): 1333-1347, 2018 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30082431
14.
Voltage-gated sodium channels assemble and gate as dimers.
Nat Commun
; 8(1): 2077, 2017 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29233994
15.
A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation.
Heart Rhythm
; 11(6): 1015-1023, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24582607
16.
Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits.
Cardiovasc Res
; 96(1): 53-63, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22739120