Detalhe da pesquisa
1.
Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.
J Neurosci
; 44(8)2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38148154
2.
Sodium channel expression and transcript variation in the developing brain of human, Rhesus monkey, and mouse.
Neurobiol Dis
; 164: 105622, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031483
3.
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Commun Biol
; 5(1): 515, 2022 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35637276
4.
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
EBioMedicine
; 84: 104244, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088682
5.
Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model.
J Clin Invest
; 131(23)2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34850743
6.
Novel venom-derived inhibitors of the human EAG channel, a putative antiepileptic drug target.
Biochem Pharmacol
; 158: 60-72, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30149017