Detalhe da pesquisa
1.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508234
2.
Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit.
Mol Psychiatry
; 27(3): 1729-1741, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35169261
3.
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
N Engl J Med
; 381(17): 1644-1652, 2019 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31597037
4.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656858
5.
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.
Brain
; 142(10): 3009-3027, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504254
6.
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
JAMA Netw Open
; 6(7): e2324380, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37471090
7.
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.
Neurol Genet
; 8(5): e200018, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36531974