Detalhe da pesquisa
1.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Hum Mol Genet
; 32(4): 580-594, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067010
2.
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.
J Hum Genet
; 68(7): 445-453, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36864284
3.
Diagnostic algorithm for children presenting with epilepsia partialis continua.
Epilepsia
; 61(10): 2224-2233, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875551
4.
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
J Peripher Nerv Syst
; 25(2): 117-124, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32096284
5.
Non-congenital viral infections of the central nervous system: from the immunocompetent to the immunocompromised child.
Pediatr Radiol
; 50(12): 1757-1767, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651625
6.
Paediatric MOG antibody-associated ADEM with complex movement disorder: A case report.
Mult Scler
; 25(1): 125-128, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30379117
7.
The spectrum of neuroimaging findings in febrile infection-related epilepsy syndrome (FIRES): A literature review.
Epilepsia
; 60(4): 585-592, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30854647
8.
Acute necrotizing encephalopathy of childhood: Prevention is better than cure especially if the cure remains elusive.
Dev Med Child Neurol
; 65(9): 1139-1140, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37012667
9.
Deep sequencing reveals persistence of cell-associated mumps vaccine virus in chronic encephalitis.
Acta Neuropathol
; 133(1): 139-147, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27770235
10.
Outcome following multiple subpial transection in Landau-Kleffner syndrome and related regression.
Epilepsia
; 56(11): 1760-6, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26337264
11.
An embedded intracranial seizure monitor for objective outcome measurements and rhythm identification.
Annu Int Conf IEEE Eng Med Biol Soc
; 2023: 1-6, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38083730
12.
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Neurology
; 100(21): e2214-e2223, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37041080
13.
Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Front Immunol
; 14: 1231749, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37744344
14.
Case report: Novel treatment regimen for enterovirus encephalitis in SCID.
Front Immunol
; 13: 930031, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36177038
15.
Clinical features, investigations, and outcomes of pediatric limbic encephalitis: A multicenter study.
Ann Clin Transl Neurol
; 9(1): 67-78, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35015932
16.
In response: Comment on outcome following multiple subpial transection in Landau-Kleffner syndrome and related regression.
Epilepsia
; 57(4): 674-5, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27041136
17.
Proposal to optimize evaluation and treatment of Febrile infection-related epilepsy syndrome (FIRES): A Report from FIRES workshop.
Epilepsia Open
; 6(1): 62-72, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33681649
18.
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Brain Commun
; 3(3): fcab162, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34466801
19.
Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.
J Hum Genet
; 55(11): 761-3, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20686492
20.
Epilepsy in paediatric patients with Parry-Romberg syndrome: A review of the literature.
Seizure
; 76: 89-95, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32044693