Detalhe da pesquisa
1.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol
; 2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606373
2.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain
; 146(12): 5198-5208, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647852
3.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
4.
Solving the unsolved genetic epilepsies: Current and future perspectives.
Epilepsia
; 64(12): 3143-3154, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750451
5.
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Brain
; 145(4): 1299-1309, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633442
6.
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
7.
Adult phenotype of KCNQ2 encephalopathy.
J Med Genet
; 59(6): 528-535, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811133
8.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906499
9.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345024
10.
Utility of genetic testing for therapeutic decision-making in adults with epilepsy.
Epilepsia
; 61(6): 1234-1239, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32427350
11.
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
12.
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
13.
Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.
Epilepsia
; 60(11): 2277-2285, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31625145
14.
The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia
; 60(5): 830-844, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968951
15.
Differences in mortality in Fusobacterium necrophorum and Fusobacterium nucleatum infections detected by culture and 16S rRNA gene sequencing.
Eur J Clin Microbiol Infect Dis
; 38(1): 75-80, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30374684
16.
Defining the phenotypic spectrum of SLC6A1 mutations.
Epilepsia
; 59(2): 389-402, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315614
17.
Reply: Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China.
Brain
; 145(4): e28-e30, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35231099
18.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain
; 140(5): 1316-1336, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28379373
19.
Genetic testing in adult epilepsy patients: A call to action for clinicians.
Epilepsia
; 61(9): 2055-2056, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32783210
20.
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.
Neurotherapeutics
; 21(1): e00296, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38241158