Detalhe da pesquisa
1.
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes.
J Med Genet
; 2024 Mar 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38508705
2.
Variants in BSN gene associated with epilepsy with favourable outcome.
J Med Genet
; 60(8): 776-783, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36600631
3.
UNC13B variants associated with partial epilepsy with favourable outcome.
Brain
; 144(10): 3050-3060, 2021 11 29.
Artigo
Inglês
| MEDLINE | ID: mdl-33876820
4.
CELSR1 variants are associated with partial epilepsy of childhood.
Am J Med Genet B Neuropsychiatr Genet
; 189(7-8): 247-256, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36453712
5.
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
Neurogenetics
; 19(1): 9-16, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29130122
6.
Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage.
Seizure
; 116: 37-44, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36941137
7.
NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation.
Mol Neurobiol
; 2024 Mar 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38520610
8.
De novo GABRA1 variants in childhood epilepsies and the molecular subregional effects.
Front Mol Neurosci
; 16: 1321090, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38269327
9.
SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation.
Front Mol Neurosci
; 16: 1162408, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37213690
10.
HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism.
Clin Transl Med
; 13(6): e1289, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37264743
11.
SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges.
Front Mol Neurosci
; 15: 862480, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35663265
12.
PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation.
Front Neurol
; 13: 836048, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35959395
13.
BCOR variants are associated with X-linked recessive partial epilepsy.
Epilepsy Res
; 187: 107036, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36279688
14.
CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.
Front Mol Neurosci
; 15: 860662, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35600082
15.
Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy.
Front Mol Neurosci
; 15: 825390, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35663266
16.
Autism in Dravet syndrome: prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation.
Epilepsy Behav
; 21(3): 291-5, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21620773
17.
RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia.
Front Neurosci
; 15: 629610, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33897349
18.
GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.
Front Mol Neurosci
; 14: 720984, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34720871
19.
Ilepcimide inhibited sodium channel activity in mouse hippocampal neurons.
Epilepsy Res
; 170: 106533, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33385943
20.
CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.
CNS Neurosci Ther
; 27(10): 1146-1156, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34109749