Detalhe da pesquisa
1.
Heterozygous variants in USP25 cause genetic generalized epilepsy.
Brain
; 2024 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38875478
2.
NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation.
Mol Neurobiol
; 2024 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38520610
3.
Corrigendum: ATP6V0C is associated with febrile seizures and epilepsy with febrile seizures plus.
Front Mol Neurosci
; 17: 1385915, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38495552
4.
Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation.
Front Aging Neurosci
; 14: 848919, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35462688
5.
Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A.
Front Mol Neurosci
; 15: 828846, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35359575
6.
ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus.
Front Mol Neurosci
; 15: 889534, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35600075
7.
HLA-B*13:01 as a Risk Allele for Antiepileptic Drugs-Induced Cutaneous Adverse Reactions: Higher Risk for Cross-Reactivity?
Front Neurol
; 10: 614, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31263447
8.
A Point Mutation in SCN1A 5' Genomic Region Decreases the Promoter Activity and Is Associated with Mild Epilepsy and Seizure Aggravation Induced by Antiepileptic Drug.
Mol Neurobiol
; 54(4): 2428-2434, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26969601