Detalhe da pesquisa
1.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet;
32(14): 2373-2385, 2023 07 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37195288
2.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet;
108(12): 2368-2384, 2021 12 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34800363
3.
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Am J Hum Genet;
107(4): 683-697, 2020 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32853554
4.
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Am J Hum Genet;
104(6): 1060-1072, 2019 06 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31104773
5.
Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy.
Neuropediatrics;
51(5): 368-372, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32392612
6.
KCNC2 variants of uncertain significance are also associated to various forms of epilepsy.
Front Neurol;
14: 1212079, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37360341
7.
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series.
EBioMedicine;
83: 104234, 2022 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36029553
8.
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Neurology;
98(20): e2046-e2059, 2022 05 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35314505
9.
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.
Mol Genet Genomic Med;
2018 May 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29779243