Detalhe da pesquisa
1.
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain
; 144(12): 3635-3650, 2021 12 31.
Artigo
Inglês
| MEDLINE | ID: mdl-34114611
2.
Mesial Temporal Sclerosis as Late Consequence of Posterior Reversible Encephalopathy Syndrome in Pediatric Hemato-oncologic Patients.
J Pediatr Hematol Oncol
; 44(1): e168-e175, 2022 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33661175
3.
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.
Am J Med Genet A
; 176(12): 2835-2840, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30238602
4.
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.
Mol Genet Genomic Med
; 8(10): e1371, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32779865
5.
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.
Neurol Genet
; 6(6): e528, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33659638
6.
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Neurology
; 87(1): 77-85, 2016 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27281533
7.
Type 1 diabetes and epilepsy: more than a casual association?
Epilepsia
; 51(2): 320-1, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-20331700
8.
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy.
Clin Dysmorphol
; 27(1): 18-20, 2018 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-29194067