Detalhe da pesquisa
1.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385166
2.
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Brain
; 145(5): 1684-1697, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788397
3.
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Brain
; 145(5): 1668-1683, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35190816
4.
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain
; 144(12): 3635-3650, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114611
5.
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Am J Hum Genet
; 103(6): 1022-1029, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526861
6.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Am J Hum Genet
; 102(5): 744-759, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656859
7.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144681
8.
Diagnostic implications of genetic copy number variation in epilepsy plus.
Epilepsia
; 60(4): 689-706, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30866059
9.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Brain
; 140(9): 2322-2336, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050398
10.
Auditory cortex tACS and tRNS for tinnitus: single versus multiple sessions.
Neural Plast
; 2014: 436713, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25587455
11.
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Neurology
; 99(3): e221-e233, 2022 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851549
12.
RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
Neurology
; 96(11): e1539-e1550, 2021 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33504645
13.
Treatment Responsiveness in KCNT1-Related Epilepsy.
Neurotherapeutics
; 16(3): 848-857, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31054119
14.
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
NPJ Genom Med
; 4: 31, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31814998
15.
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Nat Commun
; 10(1): 708, 2019 02 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30755616
16.
De novo variants in neurodevelopmental disorders with epilepsy.
Nat Genet
; 50(7): 1048-1053, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29942082
17.
STXBP1 as a therapeutic target for epileptic encephalopathy.
Expert Opin Ther Targets
; 21(11): 1027-1036, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28971703
18.
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
Mol Genet Genomic Med
; 4(5): 568-80, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27652284
19.
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Neurology
; 86(10): 954-62, 2016 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26865513
20.
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Eur J Hum Genet
; 24(12): 1761-1770, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27352968