Detalhe da pesquisa
1.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol
; 2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606373
2.
Short- vs long-term assessment of heart rate variability: Clinical significance in Dravet Syndrome.
Epilepsy Behav
; 146: 109357, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37499580
3.
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
Am J Med Genet C Semin Med Genet
; 190(4): 501-509, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36448195
4.
Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging.
Neuroradiology
; 64(1): 185-195, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34309696
5.
Temporal lobe epilepsy surgery in children and adults: A multicenter study.
Epilepsia
; 62(1): 128-142, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33258120
6.
A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset.
Neurol Sci
; 42(11): 4759-4765, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34292449
7.
Role of high-density EEG (hdEEG) in pre-surgical epilepsy evaluation in children: case report and review of the literature.
Childs Nerv Syst
; 37(5): 1429-1437, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33604716
8.
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study.
Epilepsia
; 61(11): 2405-2414, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32945537
9.
Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation.
Epilepsia
; 61(2): 216-227, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876960
10.
Early neurodevelopmental characterization in children with cobalamin C/defect.
J Inherit Metab Dis
; 43(2): 367-374, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31503356
11.
Multimodal assessment of motor pathways and intracortical connections in functional hemispherectomy.
Childs Nerv Syst
; 36(12): 3085-3093, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32388813
12.
Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons.
Childs Nerv Syst
; 36(10): 2553-2570, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32564157
13.
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Hum Mutat
; 40(5): 601-618, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30801875
14.
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report.
BMC Med Genet
; 20(1): 40, 2019 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30866851
15.
Dravet syndrome: Early electroclinical findings and long-term outcome in adolescents and adults.
Epilepsia
; 60 Suppl 3: S49-S58, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31904122
16.
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
Epilepsia
; 59(12): 2260-2271, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30451291
17.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Brain
; 140(9): 2322-2336, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050398
18.
Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study.
Epilepsy Behav
; 75: 151-157, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28866334
19.
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.
Am J Med Genet A
; 170(9): 2389-93, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27320412
20.
Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study.
Epilepsia
; 57(11): 1808-1816, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27762437