Detalhe da pesquisa
1.
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.
Epilepsia;
60(5): e31-e36, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30719712
2.
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
PLoS Genet;
11(5): e1005226, 2015 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25950944
3.
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Brain;
138(Pt 5): 1198-207, 2015 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25783594
4.
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Hum Mol Genet;
21(24): 5359-72, 2012 Dec 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22949513
5.
Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel KCNQ1 Loss-of-Function Mutation.
Front Neurol;
10: 648, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31293497
6.
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
Lancet Neurol;
17(8): 699-708, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30033060
7.
Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy.
Free Radic Biol Med;
106: 270-277, 2017 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28232204
8.
Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus.
Nat Commun;
8(1): 1511, 2017 11 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29142228
9.
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.
Neurology;
83(23): 2183-7, 2014 Dec 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25361775