Detalhe da pesquisa
1.
Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy.
Neuropediatrics
; 54(5): 347-350, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37003255
2.
Drug-resistant epilepsy at the age extremes: Disentangling the underlying etiology.
Epilepsy Behav
; 132: 108739, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35636351
3.
Clinical and electroencephalographic correlates of psychiatric features in children with frontal lobe epilepsy.
Epilepsy Behav
; 92: 283-289, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30731294
4.
Internalizing and externalizing symptoms in preschool and school-aged children with epilepsy: Focus on clinical and EEG features.
Epilepsy Behav
; 79: 68-74, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29253677
5.
Temporal lobe connects regression and macrocephaly to autism spectrum disorders.
Eur Child Adolesc Psychiatry
; 25(4): 421-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26224585
6.
Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children.
Clin Neurophysiol Pract
; 9: 102-105, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38495955
7.
Children with Autism Spectrum Disorder and Abnormalities of Clinical EEG: A Qualitative Review.
J Clin Med
; 13(1)2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38202286
8.
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.
Epilepsia Open
; 9(1): 417-423, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37805811
9.
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Orphanet J Rare Dis
; 19(1): 107, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459574
10.
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
11.
Glycaemic Imbalances in Seizures and Epilepsy of Paediatric Age: A Literature Review.
J Clin Med
; 12(7)2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37048663
12.
CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.
Seizure
; 104: 32-37, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36476360
13.
Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature.
Am J Med Genet A
; 173(2): 556-560, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862928
14.
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature.
Epilepsy Behav
; 25(4): 567-72, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23159380
15.
Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pair.
Seizure
; 99: 127-130, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35636160
16.
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
J Neurol
; 269(1): 437-450, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34487232
17.
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.
Am J Med Genet A
; 155A(1): 164-7, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204226
18.
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.
Dev Med Child Neurol
; 53(4): 354-60, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21309761
19.
17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype.
Genes (Basel)
; 12(11)2021 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828266
20.
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.
Epilepsia
; 50(6): 1344-53, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19016831