Purpose: To assess if absence seizures (ASs) occur in patients with myoclonic epilepsy of infancy (MEI). Methods: A retrospective chart review was conducted in 37 patients with MEI followed at seven different paediatric epilepsy centres in Italy, between 2002 and 2014. To assess the possible occurrence of pure ASs or absences associated with...
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2015 (v1)PublicationUploaded on: April 14, 2023
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2022 (v1)Publication
Purpose: EEG anomalies and epilepsy are a not so rare clinical manifestation in patients with Phosphatase and tensin homolog (PTEN) variants. The main aim of this study is to analyze the characteristics of EEG traces, neuroimaging findings and epilepsy to better define the neurological aspects in a set of patients with PTEN variants collected...
Uploaded on: February 11, 2024 -
2015 (v1)Publication
Seizures are rarely reported in Williams-Beuren syndrome (WBS)-a contiguous-gene-deletion disorder caused by a 7q11.23 heterozygous deletion of 1.5-1.8 Mb-and no previous study evaluated electro-clinical features of epilepsy in this syndrome. Furthermore, it has been hypothesized that atypical deletion (e.g., larger than 1.8 Mb) may be...
Uploaded on: April 14, 2023 -
2015 (v1)Publication
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Uploaded on: April 14, 2023 -
2022 (v1)Publication
IntroductionStroke-like syndrome (SLS) is a rare subacute neurological complication of intrathecal or high-dose (>= 500 mg) Methotrexate (MTX) administration. Its clinical features, evoking acute cerebral ischaemia with fluctuating course symptoms and a possible spontaneous resolution, have elicited interest among the scientific community....
Uploaded on: February 14, 2024 -
2022 (v1)Publication
BackgroundMoyamoya is a rare progressive cerebral arteriopathy, occurring as an isolated phenomenon (moyamoya disease, MMD) or associated with other conditions (moyamoya syndrome, MMS), responsible for 6-10% of all childhood strokes and transient ischemic attacks (TIAs). MethodsWe conducted a retrospective multicenter study on pediatric-onset...
Uploaded on: February 14, 2024