Detalhe da pesquisa
1.
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
J Med Genet
; 56(2): 75-80, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30368457
2.
Outcomes and comorbidities of SCN1A-related seizure disorders.
Epilepsy Behav
; 90: 252-259, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30527252
3.
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.
Epilepsia
; 59(6): 1154-1165, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750338
4.
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
Epilepsia
; 59(3): 690-703, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460957
5.
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
PLoS Genet
; 11(5): e1005226, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25950944
6.
Modifier genes in SCN1A-related epilepsy syndromes.
Mol Genet Genomic Med
; 8(4): e1103, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032478
7.
Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.
Mol Genet Genomic Med
; 7(7): e00727, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31144463
8.
A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.
Epilepsia Open
; 4(1): 102-109, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30868120
9.
Effect of vaccinations on seizure risk and disease course in Dravet syndrome.
Neurology
; 85(7): 596-603, 2015 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26203087
10.
Clinical and genetic analysis of a family with two rare reflex epilepsies.
Seizure
; 29: 90-6, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26076849