Detalhe da pesquisa
1.
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.
Cereb Cortex
; 33(12): 7454-7467, 2023 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977636
2.
Use of Sodium Channel Blockers in the Thr226Met Pathologic Variant of SCN1A: A Case Report.
Neuropediatrics
; 54(6): 417-421, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467773
3.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029936
4.
SIGLEC1 (CD169) as a potential diagnostical screening marker for monogenic interferonopathies.
Pediatr Allergy Immunol
; 32(3): 621-625, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33099809
5.
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain
; 133(Pt 3): 655-70, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20129935
6.
Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood.
Epilepsia
; 51(7): 1323-8, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20345937
7.
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.
Eur J Paediatr Neurol
; 28: 81-88, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32811771
8.
Severity Assessment in CDKL5 Deficiency Disorder.
Pediatr Neurol
; 97: 38-42, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147226
9.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 48(10): 1185-92, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27571260
10.
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 49(2): 317, 2017 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28138155