Detalhe da pesquisa
1.
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Am J Hum Genet
; 108(4): 722-738, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798445
2.
Investigating genetic variants in microRNA regulators of Neurokinin-1 receptor in sudden infant death syndrome.
Acta Paediatr
; 112(2): 273-276, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271909
3.
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.
Int J Mol Sci
; 23(23)2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36499459
4.
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
Ann Neurol
; 79(4): 522-34, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26704558
5.
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ann Neurol
; 79(1): 120-31, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26505888
6.
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
7.
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.
J Med Genet
; 53(4): 217-25, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26740507
8.
BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.
Am J Med Genet A
; 170(11): 3033-3038, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27480663
9.
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.
EMBO Rep
; 15(6): 723-9, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24668262
10.
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
Am J Hum Genet
; 90(1): 152-60, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22243967
11.
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.
Ann Neurol
; 75(5): 782-7, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24585383
12.
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
Ann Neurol
; 75(4): 581-90, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24591078
13.
Mutations in KCNT1 cause a spectrum of focal epilepsies.
Epilepsia
; 56(9): e114-20, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26122718
14.
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
15.
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Am J Hum Genet
; 88(5): 657-63, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549339
16.
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Brain
; 136(Pt 4): 1146-54, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23449775
17.
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
J Med Genet
; 50(3): 133-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23343561
18.
Aneuploidy is Linked to Neurological Phenotypes Through Oxidative Stress.
J Mol Neurosci
; 74(2): 50, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693434
19.
Drosophila expressing mutant human KCNT1 transgenes make an effective tool for targeted drug screening in a whole animal model of KCNT1-epilepsy.
Sci Rep
; 14(1): 3357, 2024 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336906
20.
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Am J Hum Genet
; 87(3): 371-5, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20797691