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
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38744284
2.
Direct fluorescent labeling of NF186 and NaV1.6 in living primary neurons using bioorthogonal click chemistry.
J Cell Sci
; 136(12)2023 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37288813
3.
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
PLoS Comput Biol
; 19(3): e1010959, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36877742
4.
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
Brain
; 146(10): 4144-4157, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165652
5.
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.
Cereb Cortex
; 33(12): 7454-7467, 2023 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977636
6.
Voltage-gated calcium channels in genetic epilepsies.
J Neurochem
; 2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37822150
7.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Hum Mol Genet
; 30(23): 2300-2314, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245260
8.
Ictal Electroencephalographic Characteristics of Nodding Syndrome: A Comparative Case-Series from South Sudan, Tanzania, and Uganda.
Ann Neurol
; 92(1): 75-80, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35438201
9.
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
10.
[Gene Therapy for Epilepsy: Clinical Studies are on the Road]. / Gentherapien für Epilepsie: Klinische Studien sind auf dem Weg.
Fortschr Neurol Psychiatr
; 91(4): 135-140, 2023 Apr.
Artigo
em Alemão
| MEDLINE | ID: mdl-36716773
11.
Benchmarking of univariate pleiotropy detection methods applied to epilepsy.
Hum Mutat
; 43(9): 1314-1332, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35620985
12.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 24(10): 2079-2090, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986737
13.
Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
Ann Neurol
; 89(3): 573-586, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325057
14.
Combined electrophysiological and morphological phenotypes in patients with genetic generalized epilepsy and their healthy siblings.
Epilepsia
; 63(7): 1643-1657, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35416282
15.
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.
Epilepsia
; 63(10): 2461-2475, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35716052
16.
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.
Epilepsia
; 63(6): 1563-1570, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35298028
17.
Do all patients in the epilepsy monitoring unit experience the same level of comfort? A quantitative exploratory secondary analysis.
J Adv Nurs
; 78(7): 2004-2014, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837405
18.
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Ann Hum Genet
; 85(5): 186-195, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34111303
19.
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
J Neurol Neurosurg Psychiatry
; 92(10): 1044-1052, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33903184
20.
Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons.
Brain
; 143(7): 2119-2138, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32572454