Detalhe da pesquisa
1.
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Epilepsia
; 65(4): 1046-1059, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38410936
2.
Comorbidities and predictors of health-related quality of life in Dravet syndrome: A 10-year, prospective follow-up study.
Epilepsia
; 64(4): 1012-1020, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36740581
3.
Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.
Epilepsia
; 64(1): 139-151, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196777
4.
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brain
; 145(12): 4275-4286, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35037686
5.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brain
; 145(11): 3816-3831, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35696452
6.
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.
Epilepsia
; 63(6): 1349-1397, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503712
7.
Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions.
Epilepsia
; 63(6): 1333-1348, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503715
8.
ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions.
Epilepsia
; 63(6): 1475-1499, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503716
9.
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.
Epilepsia
; 63(6): 1398-1442, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503717
10.
International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions.
Epilepsia
; 63(6): 1443-1474, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503725
11.
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Brain
; 144(9): 2879-2891, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687210
12.
The clinical, economic, and humanistic burden of Dravet syndrome - A systematic literature review.
Epilepsy Behav
; 130: 108661, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35334258
13.
Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut Syndrome.
N Engl J Med
; 378(20): 1888-1897, 2018 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29768152
14.
Time to onset of cannabidiol treatment effects in Dravet syndrome: Analysis from two randomized controlled trials.
Epilepsia
; 62(9): 2218-2227, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34265088
15.
The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures.
Epilepsia
; 62(3): 615-628, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33522601
16.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
17.
Climate change and epilepsy: Insights from clinical and basic science studies.
Epilepsy Behav
; 116: 107791, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33578223
18.
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Hum Mutat
; 41(2): 363-374, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31782251
19.
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Epilepsia
; 61(3): 387-399, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32090326
20.
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.
Brain
; 142(8): 2303-2318, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31302675