Detalhe da pesquisa
1.
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Brain
; 143(5): 1447-1461, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32282878
2.
Testing association of rare genetic variants with resistance to three common antiseizure medications.
Epilepsia
; 61(4): 657-666, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141622
3.
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.
Brain
; 142(2): 376-390, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30615093
4.
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
5.
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Brain
; 140(11): 2879-2894, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053855
6.
Galanin pathogenic mutations in temporal lobe epilepsy.
Hum Mol Genet
; 24(11): 3082-91, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691535
7.
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Ann Neurol
; 79(3): 428-36, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26677014
8.
Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.
Epilepsia
; 58(10): 1734-1741, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28857179
9.
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Brain
; 138(Pt 11): 3238-50, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26384929
10.
DEPDC5 mutations in genetic focal epilepsies of childhood.
Ann Neurol
; 75(5): 788-92, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24591017
11.
Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.
Epilepsia
; 56(9): e129-33, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26174448
12.
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
13.
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.
Epilepsia
; 54(2): 265-71, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23350840
14.
Researching the Aftermath of Slavery in Mainland East Africa: Methodological, Ethical, and Practical Challenges.
Slavery Abol
; 44(1): 131-156, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896325
15.
Unified Quantification of Quantum Defects in Small-Diameter Single-Walled Carbon Nanotubes by Raman Spectroscopy.
ACS Nano
; 17(21): 21771-21781, 2023 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37856164
16.
PRRT2 mutations are the major cause of benign familial infantile seizures.
Hum Mutat
; 33(10): 1439-43, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22623405
18.
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Epilepsia
; 53(8): 1387-98, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22612257
19.
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
Epilepsia
; 53(2): 308-18, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22242659
20.
In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during Neurodevelopment.
Stem Cell Reports
; 15(1): 22-37, 2020 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32559460