Detalhe da pesquisa
1.
Lacosamide effectiveness and tolerability in patients with drug-resistant epilepsy and severe disability under polytherapy: Therapy optimization as emerging from an observational study.
Epilepsy Behav
; 128: 108598, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35151192
2.
Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.
Epilepsy Behav
; 124: 108315, 2021 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34619538
3.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Genet Med
; 20(9): 965-975, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300384
4.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Genet Med
; 19(6): 691-700, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27831545
5.
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.
Am J Med Genet A
; 161A(2): 273-84, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23322667
6.
Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature.
Epilepsia
; 53(7): 1146-55, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22578097
7.
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Genes (Basel)
; 13(2)2022 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205321
8.
SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.
Brain Sci
; 12(1)2021 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35053762
9.
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Seizure
; 88: 60-72, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33831796
10.
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
J Neurol Neurosurg Psychiatry
; 81(8): 840-3, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20682717
11.
Neurodevelopmental evolution of West syndrome: a 2-year prospective study.
Eur J Paediatr Neurol
; 12(5): 387-97, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18063397
12.
Electrical status epilepticus during sleep in Mowat-Wilson syndrome.
Brain Dev
; 39(9): 727-734, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28501473
13.
Late Post-traumatic Epilepsy in Children and Young Adults: Impropriety of Long-Term Antiepileptic Prophylaxis and Risks in Tapering.
Paediatr Drugs
; 18(3): 235-42, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26913859
14.
Partial deletion of DEPDC5 in a child with focal epilepsy.
Epilepsia Open
; 1(3-4): 140-144, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29588938
15.
Paroxysmal phenomena in severe disabled children with refractory seizures. From clinical to long-video-EEG processing data to re-examine suspect events.
Res Dev Disabil
; 36C: 125-133, 2015 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25462473
16.
Novel epilepsy phenotype associated to a known SCN8A mutation.
Seizure
; 67: 15-17, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30851583
17.
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
Arch Neurol
; 65(4): 489-94, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18413471
18.
Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function.
Dev Med Child Neurol
; 47(11): 760-5, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16225740
19.
Visual function in infants with West syndrome: correlation with EEG patterns.
Epilepsia
; 45(7): 781-6, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15230702