Margherita Estienne
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View article: Intranasal dexmedetomidine sedation for EEG in children with autism spectrum disorder
Intranasal dexmedetomidine sedation for EEG in children with autism spectrum disorder Open
Introduction The aim of the study was to assess the efficacy of In-Dex sedation in comparison to oral melatonin and hydroxyzine in individuals with Autism Spectrum Disorder (ASD) undergoing EEG recording and 15 determine which categories o…
View article: Table of Contents
Table of Contents Open
View article: Clinical features and magnesium levels: Novel insights in 15q11.2 BP1–BP2 copy number variants
Clinical features and magnesium levels: Novel insights in 15q11.2 BP1–BP2 copy number variants Open
Background Investigating copy number variations (CNVs) such as microdeletions or microduplications can significantly contribute to discover the aetiology of neurodevelopmental disorders. 15q11.2 genomic region, including NIPA1 and NIPA2 ge…
View article: datset related to article "Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
datset related to article "Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene Open
clinical data of a single GRIA3 case patient followed at Fondazione Besta involved in the study at title
View article: data related to article "Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene"
data related to article "Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene" Open
Clinical data of patient followed in the study mentioned at title
View article: data related to article "Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene"
data related to article "Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene" Open
Clinical data of patient followed in the study mentioned at title
View article: Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene Open
In the original published article, the name of the seventh author has been misspelled. “Jia-Hun Sun” should be “Jia-Hui Sun”. This is being corrected in this publication.
View article: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene Open
View article: Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy Open
View article: Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function Open
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutières syndrome and Singleton Merten syndrome. Ascertaining patients through a Eur…