Detalhe da pesquisa
1.
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
PLoS Comput Biol
; 19(3): e1010959, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36877742
2.
Endogenous but not sensory-driven activity controls migration, morphogenesis and survival of adult-born juxtaglomerular neurons in the mouse olfactory bulb.
Cell Mol Life Sci
; 80(4): 98, 2023 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36932186
3.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Hum Mol Genet
; 30(23): 2300-2314, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245260
4.
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Am J Hum Genet
; 99(4): 802-816, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616483
5.
SCN2A channelopathies: Mechanisms and models.
Epilepsia
; 60 Suppl 3: S68-S76, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31904120
6.
Novel treatment approaches and pediatric research networks in status epilepticus.
Epilepsy Behav
; 101(Pt B): 106564, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31708430
7.
[Epileptogenesis and consequences for treatment]. / Epileptogenese und Konsequenzen für die Therapie.
Nervenarzt
; 90(8): 773-780, 2019 Aug.
Artigo
em Alemão
| MEDLINE | ID: mdl-31243507
8.
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
Hum Mutat
; 39(12): 1942-1956, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30144217
9.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Brain
; 140(9): 2337-2354, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050392
10.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain
; 140(5): 1316-1336, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28379373
11.
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Ann Neurol
; 80(4)2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27543892
12.
Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human Na(V)1.1 mutation.
J Neurosci
; 34(45): 14874-89, 2014 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25378155
14.
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.
Epilepsia
; 54(9): e117-21, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23758435
15.
KCNC2 variants of uncertain significance are also associated to various forms of epilepsy.
Front Neurol
; 14: 1212079, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37360341
16.
Loss or gain of function? Effects of ion channel mutations on neuronal firing depend on the neuron type.
Front Neurol
; 14: 1194811, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37292138
17.
In vitro effects of eslicarbazepine (S-licarbazepine) as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders.
Br J Pharmacol
; 180(8): 1038-1055, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36321697
18.
KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine.
Ann Clin Transl Neurol
; 10(4): 656-663, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36793218
19.
Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.
EBioMedicine
; 81: 104115, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35759918
20.
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Neurology
; 98(20): e2046-e2059, 2022 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35314505