Detalhe da pesquisa
1.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195288
2.
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.
J Clin Immunol
; 43(4): 808-818, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36753016
3.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Clin Genet
; 103(3): 346-351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371792
4.
Treatment of new onset refractory status epilepticus/febrile infection-related epilepsy syndrome with tocilizumab in a child and a young adult.
Epilepsia
; 64(6): e87-e92, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36961094
5.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906456
6.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906499
7.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia
; 63(10): 2519-2533, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718920
8.
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
Epilepsy Behav
; 126: 108471, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34915430
9.
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Epilepsia
; 62(2): 325-334, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410528
10.
Vertical parasagittal hemispherotomy: a case report of postoperative mesio-temporal seizures via amygdalofugal pathway.
Acta Neurochir (Wien)
; 163(10): 2833-2836, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34291381
11.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Hum Mutat
; 41(1): 69-80, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31513310
12.
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Am J Hum Genet
; 101(3): 428-440, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28823707
13.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Am J Hum Genet
; 100(1): 151-159, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27989324
14.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Epilepsia
; 61(11): 2461-2473, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954514
15.
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Brain
; 142(10): 2996-3008, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31532509
16.
Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy.
Epilepsy Behav
; 105: 106944, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32097883
17.
The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(2): 398-408, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30093711
18.
Correction: The landscape of epilepsy-related GATOR1 variants.
Genet Med
; 21(8): 1896, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30262923
19.
Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.
Epilepsia
; 60(1): 20-32, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30525185
20.
Defining the phenotypic spectrum of SLC6A1 mutations.
Epilepsia
; 59(2): 389-402, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315614