Detalhe da pesquisa
1.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Epilepsia
; 65(5): 1439-1450, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38491959
2.
Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature.
Neurocase
; 30(2): 68-72, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38769754
3.
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
Cereb Cortex
; 33(17): 9709-9717, 2023 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37429835
4.
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1.
Am J Med Genet C Semin Med Genet
; 2023 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37132416
5.
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Brain
; 145(9): 3274-3287, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769015
6.
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations.
Fetal Pediatr Pathol
; 42(2): 334-341, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36048137
7.
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
Am J Med Genet A
; 188(2): 522-533, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713950
8.
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Brain
; 144(5): 1435-1450, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33880529
9.
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Ann Neurol
; 88(2): 348-362, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32515017
10.
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
Am J Med Genet A
; 185(8): 2526-2531, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34008900
11.
The spectrum of brain malformations and disruptions in twins.
Am J Med Genet A
; 185(9): 2690-2718, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33205886
12.
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
13.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452540
14.
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
Brain
; 142(8): 2319-2335, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31257402
15.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Brain
; 141(11): 3160-3178, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30351409
16.
What is the role of next generation sequencing in status epilepticus?
Epilepsy Behav
; 101(Pt B): 106373, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31300382
17.
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Genet Med
; 20(11): 1354-1364, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29671837
18.
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Mov Disord
; 38(12): 2313-2314, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632268
19.
PRICKLE1-related early onset epileptic encephalopathy.
Am J Med Genet A
; 176(12): 2841-2845, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345727
20.
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation.
Am J Med Genet A
; 176(12): 2808-2812, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30144370