Detalhe da pesquisa
1.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain
; 145(9): 2991-3009, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34431999
2.
Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons.
Brain
; 143(7): 2119-2138, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32572454
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.
Gain-of-function HCN2 variants in genetic epilepsy.
Hum Mutat
; 39(2): 202-209, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29064616
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.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Brain
; 140(9): 2337-2354, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050392
7.
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Ann Neurol
; 80(4)2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27543892
8.
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
9.
Alterations in the α2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.
Epilepsia
; 58(11): 1993-2001, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28913875
10.
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
11.
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
12.
DEPDC5 mutations in genetic focal epilepsies of childhood.
Ann Neurol
; 75(5): 788-92, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24591017
13.
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Eur J Hum Genet
; 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38316952
14.
Regulation of ClC-2 gating by intracellular ATP.
Pflugers Arch
; 465(10): 1423-37, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23632988
15.
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
16.
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
EBioMedicine
; 84: 104244, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088682
17.
Rare gene deletions in genetic generalized and Rolandic epilepsies.
PLoS One
; 13(8): e0202022, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30148849
18.
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
19.
Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?
Epilepsy Res
; 114: 47-51, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26088884
20.
Investigation of GRIN2A in common epilepsy phenotypes.
Epilepsy Res
; 115: 95-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220384