Margherita Estienne

Milan, Italy

Last Updated: 09/26/2026

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Found 11 publications

Intranasal dexmedetomidine sedation for EEG in children with autism spectrum disorder.

Intranasal dexmedetomidine sedation for EEG in children with autism spectrum disorder.

Journal: Frontiers in psychiatry

Published: July 10, 2024

Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.

Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.

Journal: Pediatric neurology

Published: February 22, 2023

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.

Journal: Journal of intellectual disability research : JIDR

Published: February 15, 2022

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.

Journal: Neurogenetics

Published: November 27, 2021

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.

Journal: Neurogenetics

Published: March 03, 2021

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Journal: Human mutation

Published: October 15, 2019

The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.

The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: November 20, 2017

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

Journal: European journal of medical genetics

Published: June 06, 2016

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

Journal: Human mutation

Published: April 06, 2016

PDCD10 gene mutations in multiple cerebral cavernous malformations.

PDCD10 gene mutations in multiple cerebral cavernous malformations.

Journal: PloS one

Published: May 12, 2014

MEF2C deletions and mutations versus duplications: a clinical comparison.

MEF2C deletions and mutations versus duplications: a clinical comparison.

Journal: European journal of medical genetics

Published: May 23, 2012

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Last Updated: 09/26/2026