Detalhe da pesquisa
1.
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy.
Curr Issues Mol Biol
; 46(2): 1150-1163, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38392191
2.
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Int J Mol Sci
; 25(2)2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38256219
3.
Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.
Epilepsia
; 64(10): 2550-2570, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37655702
4.
The Role of Supplements and Over-the-Counter Products to Improve Sleep in Children: A Systematic Review.
Int J Mol Sci
; 24(9)2023 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37175525
5.
STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy.
Int J Mol Sci
; 24(22)2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003627
6.
Eating and Sensory Features of Children With Autism Spectrum Disorder and Their Typically Developing Peers.
Am J Occup Ther
; 77(6)2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38018651
7.
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay.
Cytogenet Genome Res
; 162(7): 365-371, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758534
8.
Epilepsy, electroclinical features, and long-term outcomes in Pitt-Hopkins syndrome due to pathogenic variants in the TCF4 gene.
Eur J Neurol
; 29(1): 19-25, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34519126
9.
Determination of Perampanel in Dried Plasma Spots: Applicability to Therapeutic Drug Monitoring.
Ther Drug Monit
; 42(2): 309-314, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31365481
10.
Cognitive, adaptive, and behavioral effects of adjunctive rufinamide in Lennox-Gastaut syndrome: A prospective observational clinical study.
Epilepsy Behav
; 112: 107445, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32920379
11.
Perampanel tolerability in children and adolescents with focal epilepsy: Effects on behavior and executive functions.
Epilepsy Behav
; 103(Pt A): 106879, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31937512
12.
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report.
Medicina (Kaunas)
; 56(8)2020 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32752300
13.
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
Hum Genet
; 138(2): 187-198, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30656450
14.
Eyelid myoclonia with absences: Electroclinical features and prognostic factors.
Epilepsia
; 60(6): 1104-1113, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31087661
15.
Do neurologists agree in diagnosing drug resistance in adults with focal epilepsy?
Epilepsia
; 60(1): 175-183, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30585315
16.
Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.
Acta Neurol Scand
; 138(6): 523-530, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30109707
17.
Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients.
Epilepsy Behav
; 75: 225-229, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28827041
18.
Autism, epilepsy, and synaptopathies: a not rare association.
Neurol Sci
; 38(8): 1353-1361, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28455770
19.
Risk factors for unprovoked epileptic seizures in multiple sclerosis: a systematic review and meta-analysis.
Neurol Sci
; 38(3): 399-406, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28054170
20.
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities.
Am J Med Genet C Semin Med Genet
; 172(3): 288-95, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519909