Detalhe da pesquisa
1.
Genetic testing for the epilepsies: A systematic review.
Epilepsia
; 63(2): 375-387, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34893972
2.
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
Inglês
| MEDLINE | ID: mdl-29656858
3.
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Epilepsia
; 61(3): 387-399, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32090326
4.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 103(4): 631, 2018 10 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30290155
5.
Copy number variation plays an important role in clinical epilepsy.
Ann Neurol
; 75(6): 943-58, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24811917
6.
Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.
Pediatr Neurol
; 138: 71-80, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36403551
7.
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
Lancet Neurol
; 22(9): 812-825, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37596007