Detalhe da pesquisa
1.
Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.
J Neurosci;
44(8)2024 Feb 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38148154
2.
Carbogen-Induced Respiratory Acidosis Blocks Experimental Seizures by a Direct and Specific Inhibition of NaV1.2 Channels in the Axon Initial Segment of Pyramidal Neurons.
J Neurosci;
43(10): 1658-1667, 2023 03 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36732074
3.
Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy.
J Neurosci;
43(12): 2199-2209, 2023 03 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36813574
4.
Improved Cardiac Function in Postischemic Rats Using an Optimized Cardiac Reprogramming Cocktail Delivered in a Single Novel Adeno-Associated Virus.
Circulation;
148(14): 1099-1112, 2023 10 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37602409
5.
Preface: Special issue: "Ion channels and genetic epilepsy".
J Neurochem;
2024 May 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38722169
6.
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Brain;
146(12): 5086-5097, 2023 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37977818
7.
The Potential Antidepressant Compound Org 34167 Modulates HCN Channels Via a Novel Mode of Action.
Mol Pharmacol;
104(2): 62-72, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37280099
8.
HCN1 epilepsy: From genetics and mechanisms to precision therapies.
J Neurochem;
2023 Aug 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37565989
9.
Efficacy of antiseizure medication in a mouse model of HCN1 developmental and epileptic encephalopathy.
Epilepsia;
64(1): e1-e8, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36300716
10.
GABA-mediated tonic inhibition differentially modulates gain in functional subtypes of cortical interneurons.
Proc Natl Acad Sci U S A;
117(6): 3192-3202, 2020 02 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31974304
11.
Sodium channel expression and transcript variation in the developing brain of human, Rhesus monkey, and mouse.
Neurobiol Dis;
164: 105622, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35031483
12.
Classification of antiseizure drugs in cultured neuronal networks using multielectrode arrays and unsupervised learning.
Epilepsia;
63(7): 1693-1703, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35460272
13.
Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death.
Epilepsia;
63(6): e57-e62, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35397174
14.
Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.
Brain;
144(7): 2060-2073, 2021 08 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33822003
15.
Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death.
Proc Natl Acad Sci U S A;
115(34): E8077-E8085, 2018 08 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30076230
16.
Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.
Pharmacol Rev;
70(1): 142-173, 2018 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29263209
17.
Spectrum of GABAA receptor variants in epilepsy.
Curr Opin Neurol;
32(2): 183-190, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30664068
18.
Gain-of-function HCN2 variants in genetic epilepsy.
Hum Mutat;
39(2): 202-209, 2018 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29064616
19.
Optogenetic Demonstration of Functional Innervation of Mouse Colon by Neurons Derived From Transplanted Neural Cells.
Gastroenterology;
152(6): 1407-1418, 2017 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28115057
20.
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Ann Neurol;
81(5): 677-689, 2017 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28380698