Detalhe da pesquisa
1.
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes.
J Med Genet
; 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508705
2.
CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.
Clin Genet
; 105(4): 397-405, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38173219
3.
Variants in BSN gene associated with epilepsy with favourable outcome.
J Med Genet
; 60(8): 776-783, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600631
4.
Optimization of in silico tools for predicting genetic variants: individualizing for genes with molecular sub-regional stratification.
Brief Bioinform
; 21(5): 1776-1786, 2020 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31686106
5.
I-line photolithographic metalenses enabled by distributed optical proximity correction with a deep-learning model.
Opt Express
; 30(12): 21184-21194, 2022 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36224843
6.
Potential role of regulatory DNA variants in modifying the risk of severe cutaneous reactions induced by aromatic anti-seizure medications.
Epilepsia
; 63(4): 936-949, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170024
7.
UNC13B variants associated with partial epilepsy with favourable outcome.
Brain
; 144(10): 3050-3060, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33876820
8.
CELSR1 variants are associated with partial epilepsy of childhood.
Am J Med Genet B Neuropsychiatr Genet
; 189(7-8): 247-256, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36453712
9.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 625-637, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29294000
10.
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
Brain
; 142(10): 3028-3044, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31435640
11.
Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
J Med Genet
; 56(4): 265-270, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30194086
12.
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
Genet Med
; 21(1): 17-27, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29895856
13.
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
Neurogenetics
; 19(1): 9-16, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130122
14.
Reply: UNC13B and focal epilepsy.
Brain
; 145(3): e13-e16, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35380625
15.
[Efficacy and safety of cyclophosphamide as a sequential immunotherapy drug for anti-N-methyl-D-aspartate receptor encephalitis in children].
Zhongguo Dang Dai Er Ke Za Zhi
; 19(6): 668-671, 2017 Jun.
Artigo
em Zh
| MEDLINE | ID: mdl-28606234
16.
Alteration of Scn3a expression is mediated via CpG methylation and MBD2 in mouse hippocampus during postnatal development and seizure condition.
Biochim Biophys Acta
; 1849(1): 1-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25459751
17.
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Hum Mutat
; 36(6): 573-80, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25754450
18.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 757-758, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29351621
19.
A novel variant in the 3' UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding.
Hum Genet
; 133(6): 801-11, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24464349
20.
Epilepsy-associated genes: an update.
Seizure
; 116: 4-13, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37777370