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List of works by Alessandro Orsini

17q12 microduplications: a challenge for clinicians.

scientific article

A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI

scientific article published on 18 October 2016

A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?

scientific article published on 21 March 2017

Adult Autism Subthreshold Spectrum (AdAS Spectrum) in parents of pediatric patients with epilepsy: Correlations with post-traumatic stress symptoms

scientific article published on 12 February 2018

Autosomal dominant SCN8A mutation with an unusually mild phenotype.

scientific article published on 30 April 2016

DSM-5 criteria for PTSD in parents of pediatric patients with epilepsy: What are the changes with respect to DSM-IV-TR?

scientific article published on 13 April 2017

Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7

scientific article published on 26 April 2018

KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report

scientific article published in 2024

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.

scientific article published on 14 November 2016

Medical management for neurosurgical related seizures

scientific article published on 29 August 2017

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.

scientific article published on 24 April 2012

Mothers and fathers of children with epilepsy: gender differences in post-traumatic stress symptoms and correlations with mood spectrum symptoms.

scientific article published on 25 May 2018

Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.

scientific article published on 2 February 2010

Recent advances in epilepsy genetics.

scientific article

Should children over 12 years have an EEG after a single unprovoked epileptic seizure?

scientific article published on 01 August 2018

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