Detalhe da pesquisa
1.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Am J Hum Genet;
111(6): 1184-1205, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38744284
2.
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Epilepsia;
65(4): 1046-1059, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38410936
3.
Drug resistant epilepsy and associated factors among children with epilepsies in tanzania: a cross-sectional study.
BMC Neurol;
24(1): 8, 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38166885
4.
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
5.
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.
Eur J Paediatr Neurol;
48: 46-60, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38039826
6.
Resting-State Functional MRI and PET Imaging as Noninvasive Tools to Study (Ab)Normal Neurodevelopment in Humans and Rodents.
J Neurosci;
43(49): 8275-8293, 2023 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38073598
7.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Res Sq;
2023 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37841849
8.
First report of Tunisian patients with CDKL5-related encephalopathy.
Epilepsia Open;
2023 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37701975
9.
Solving the unsolved genetic epilepsies: Current and future perspectives.
Epilepsia;
64(12): 3143-3154, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750451
10.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol;
2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606373
11.
Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy.
bioRxiv;
2023 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37205386
12.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Brain;
146(9): 3885-3897, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37006128
13.
ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy.
Epileptic Disord;
25(4): 445-453, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36939707
14.
Hot water epilepsy: A case report of a sporadic form of reflex epilepsy.
Epileptic Disord;
25(3): 426-428, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36951164
15.
Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.
Front Neurol;
14: 1092887, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36970549
16.
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Neurology;
100(12): e1234-e1247, 2023 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599696
17.
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.
Brain;
146(7): 2885-2896, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36511878
18.
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
19.
Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy.
Brain Commun;
5(6): fcad283, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425576
20.
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
EBioMedicine;
81: 104130, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35780567