List of works - Francesca Darra

A multicenter, randomized, placebo-controlled trial of levetiracetam in children and adolescents with newly diagnosed absence epilepsy

scientific article published on 14 February 2011

A study of 63 cases with eyelid myoclonia with or without absences: type of seizure or an epileptic syndrome?

scientific article published on 5 May 2009

Absence seizures in the first 3 years of life: an electroclinical study of 46 cases.

scientific article published on 26 January 2011

Benign myoclonic epilepsy in infancy (BMEI): a longitudinal electroclinical study of 22 cases

scientific article published in January 2006

Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

scientific article published on 22 March 2007

Childhood absence epilepsy and electroencephalographic focal abnormalities with or without clinical manifestations

scientific article published on 01 October 2008

Clinical dissection of early onset absence epilepsy in children and prognostic implications

scientific article published on 27 August 2013

Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients

scientific article published in January 2011

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

scientific article published on 13 May 2016

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

scientific article published on 31 October 2006

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

scientific article published on 19 November 2018

Different clinical and immunological presentation of ataxia-telangiectasia within the same family.

scientific article published in February 2008

EEG findings during "paroxysmal hemiplegia" in a patient with GLUT1-deficiency.

scientific article published on 17 January 2017

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 Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study

scientific article published on 18 September 2020

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

scientific article published on 23 January 2018

Electroclinical findings in four patients with karyotype 47,XYY.

scientific article published on 16 September 2010

Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature

scientific article published on 11 May 2012

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

scientific article

Epilepsy in ring chromosome 20 syndrome

scientific article

Epilepsy with myoclonic atonic seizures: an electroclinical study of 69 patients.

scientific article published in May 2013

Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study

scientific article published on 31 January 2014

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Familial Ohtahara syndrome due to a novel ARX gene mutation

scientific article published on 01 December 2010

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

scientific article

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

scientific article published on 29 January 2013

Low frequency mu-like activity characterizes cortical rhythms in epilepsy due to ring chromosome 20.

scientific article published on 19 August 2013

Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients.

scientific article published on 29 January 2008

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

scientific article

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

scientific article published on 5 May 2014

Neuroimaging Changes in Menkes Disease, Part 1.

scientific article

Neuroimaging Changes in Menkes Disease, Part 2.

scientific article

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys

scientific article published on 29 September 2014

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life

scientific article published on 11 April 2011

Postural Control in Childhood: Investigating the Neurodevelopmental Gradient Hypothesis

scientific article published on 12 February 2021

Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review

scientific article published on 5 September 2016

Refining the phenotype associated with MEF2C haploinsufficiency.

scientific article published in November 2010

Restless legs syndrome and attention-deficit/hyperactivity disorder: a review of the literature

scientific article

Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children

scientific article published on 2 July 2009

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.

scientific article published on 6 September 2012

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

scientific article

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.

scientific article published on 3 April 2015

Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study

scientific article published on 20 October 2016

Temporal lobe epilepsy in children: electroclinical study of 77 cases.

scientific article

The ketogenic diet in patients with myoclonic status in non-progressive encephalopathy

scientific article published on 11 July 2017

The phenotype of SCN8A developmental and epileptic encephalopathy

scientific article published on 31 August 2018

Uncombable hair syndrome, mental retardation, single palmar crease and arched palate in a patient with neurofibromatosis type I.

scientific article published in September 2007

List of works by Francesca Darra

A multicenter, randomized, placebo-controlled trial of levetiracetam in children and adolescents with newly diagnosed absence epilepsy

A study of 63 cases with eyelid myoclonia with or without absences: type of seizure or an epileptic syndrome?

Absence seizures in the first 3 years of life: an electroclinical study of 46 cases.

Benign myoclonic epilepsy in infancy (BMEI): a longitudinal electroclinical study of 22 cases

Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

Childhood absence epilepsy and electroencephalographic focal abnormalities with or without clinical manifestations

Clinical dissection of early onset absence epilepsy in children and prognostic implications

Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

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

Different clinical and immunological presentation of ataxia-telangiectasia within the same family.

EEG findings during "paroxysmal hemiplegia" in a patient with GLUT1-deficiency.

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

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

Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study

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

Electroclinical findings in four patients with karyotype 47,XYY.

Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature

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

Epilepsy in ring chromosome 20 syndrome

Epilepsy with myoclonic atonic seizures: an electroclinical study of 69 patients.

Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Familial Ohtahara syndrome due to a novel ARX gene mutation

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

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

Low frequency mu-like activity characterizes cortical rhythms in epilepsy due to ring chromosome 20.

Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Neuroimaging Changes in Menkes Disease, Part 1.

Neuroimaging Changes in Menkes Disease, Part 2.

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life

Postural Control in Childhood: Investigating the Neurodevelopmental Gradient Hypothesis

Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review

Refining the phenotype associated with MEF2C haploinsufficiency.

Restless legs syndrome and attention-deficit/hyperactivity disorder: a review of the literature

Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.

Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study

Temporal lobe epilepsy in children: electroclinical study of 77 cases.

The ketogenic diet in patients with myoclonic status in non-progressive encephalopathy

The phenotype of SCN8A developmental and epileptic encephalopathy

Uncombable hair syndrome, mental retardation, single palmar crease and arched palate in a patient with neurofibromatosis type I.