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List of works by Patrizia Accorsi

17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature

scientific article published on 01 January 2014

Basal ganglia dysmorphism in patients with Aicardi syndrome

scientific article published on 04 December 2020

CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures

scientific article published on 07 August 2015

Congenital Systematized Basaloid Follicular Hamartoma with Microphthalmia and Hemimegalencephaly ⬇️

scientific article published on November 9, 2010

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

scientific article published on 19 November 2018

Do pure absence seizures occur in myoclonic epilepsy of infancy? A case series.

scientific article

Early onset absence epilepsy with onset in the first year of life: a multicenter cohort study.

scientific article

Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution.

scientific article published on 30 September 2012

Efficacy and safety of rufinamide in children under four years of age with drug-resistant epilepsies.

scientific article

Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15).

scientific article published on 23 January 2018

Epilepsy in Menkes disease: an electroclinical long-term study of 28 patients.

scientific article

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities

scientific article

Etiology and Prognosis of Severe Ventriculomegaly Diagnosed at Late Gestation

scientific article published on 05 July 2018

Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature

article

Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome?

scientific article published on 01 October 2010

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

scientific article

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

scientific article

MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly

scientific article published on 08 June 2017

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

scientific article published on May 2013

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

scientific article

Non-epileptic myoclonic attacks in infancy: three cases

scientific article published on December 2014

Pediatric epilepsy following neonatal seizures symptomatic of stroke.

scientific article published on 6 June 2015

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

scientific article published on 4 January 2018

Pyridoxine responsiveness in pyridox(am)ine-5-phosphate oxidase deficiency: The importance of early treatment.

scientific article published on 23 October 2017

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

scientific article published on 10 February 2016

Setleis syndrome: genetic and clinical findings in a new case with epilepsy.

scientific article published on 14 December 2013

Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study

scientific article published on 26 April 2019

The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy

scientific article published on 6 September 2015

The spectrum of intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

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