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.
Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome.
Cereb Cortex
; 33(16): 9532-9541, 2023 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37344172
3.
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
Cereb Cortex
; 33(17): 9709-9717, 2023 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37429835
4.
Adaptive behaviour in adolescents and adults with Dravet syndrome.
Dev Med Child Neurol
; 65(6): 838-846, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36316303
5.
SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life.
Epilepsy Behav
; 127: 108500, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34954508
6.
Quantitative Characterization of Motor Control during Gait in Dravet Syndrome Using Wearable Sensors: A Preliminary Study.
Sensors (Basel)
; 22(6)2022 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35336311
7.
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
8.
Head circumferences of patients with Dravet syndrome show growth slowdown.
Epilepsy Behav
; 111: 107157, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32702652
9.
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
10.
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
11.
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
12.
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
Dev Med Child Neurol
; 58(10): 1085-91, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27172925
13.
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.
Epilepsia
; 56(5): 692-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847462
14.
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
Epilepsia
; 55(11): 1748-53, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25266480
15.
Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study.
Epilepsia
; 55(3): 403-13, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24483620
16.
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
PLoS Genet
; 7(7): e1002173, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21779178
17.
Refractory tonic-myoclonic status epilepticus with catamenial recurrence in epilepsy with myoclonic atonic seizures: A case report.
Heliyon
; 10(2): e24747, 2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38304836
18.
Early onset absence epilepsy with onset in the first year of life: a multicenter cohort study.
Epilepsia
; 54 Suppl 7: 66-9, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24099057
19.
Clinical dissection of early onset absence epilepsy in children and prognostic implications.
Epilepsia
; 54(10): 1761-70, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24032425
20.
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Epilepsia
; 54(3): 425-36, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23360469