Lista de obras -

"Minimal" holoprosencephaly in a 14q deletion syndrome patient.

artículo científico publicado en 2017

A reflection on the role of genetics in the concept of "epileptic encephalopathy", as emerged from the most recent ILEA classification of epilepsy

artículo científico publicado en 2020

Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients

artículo científico publicado en 2011

Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy.

artículo científico publicado en 2008

Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy

artículo científico publicado en 2011

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

artículo científico publicado en 2007

Can ACTH therapy improve the long-term outcome of drug-resistant frontal lobe epilepsy?

artículo científico publicado en 2014

Catatonic psychosis related to forced normalization in a girl with Dravet's syndrome.

artículo científico publicado en 2008

Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma

artículo científico publicado en 2020

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

artículo científico publicado en 2013

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

artículo científico publicado en 2011

Coeliac disease, epilepsy and cerebral calcifications

artículo científico publicado en 2005

Comparing cortical auditory processing in children with typical and atypical benign epilepsy with centrotemporal spikes: Electrophysiologic evidence of the role of non-rapid eye movement sleep abnormalities

artículo científico publicado en 2015

Corrigendum to “Lacosamide in pediatric and adult patients: Comparison of efficacy and safety” [Seizure 22 (2013) 210–216]

scholarly article published in Seizure-European Journal of Epilepsy

Corrigendum to “Reflex myoclonic epilepsy in infancy: A multicenter clinical study” [Epilepsy Res. 103 (2013) 237–244]

artículo científico publicado en 2014

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

artículo científico publicado en 2014

Diagnosis and treatment of the first epileptic seizure: guidelines of the Italian League against Epilepsy

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

artículo científico publicado en 2012

Epilepsy and vaccinations: Italian guidelines

artículo científico

Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients

artículo científico publicado en 2013

Epilepsy, cerebral calcifications, and gluten-related disorders: Are anti-transglutaminase 6 antibodies the missing link?

scientific article published on 16 October 2019

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults ⬇️

artículo científico publicado el 24 de octubre de 2010

Extrastriate visual cortex in idiopathic occipital epilepsies: The contribution of retinotopic areas to spike generation

artículo científico publicado en 2016

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

Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.

artículo científico publicado en 2003

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

scientific article published on 11 April 2017

Hemispherotomy in Rasmussen encephalitis: long-term outcome in an Italian series of 16 patients.

artículo científico publicado en 2014

Ictal EEG patterns in epilepsy with centro-temporal spikes

artículo científico publicado en 2010

Idiopathic generalized epilepsies of adolescence

artículo científico publicado en 2006

Lack of SCN1A mutations in familial febrile seizures

scientific article published on 01 May 2002

Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood

artículo científico publicado en 2012

Lacosamide in pediatric and adult patients: comparison of efficacy and safety.

artículo científico publicado en 2013

Late-onset childhood occipital epilepsy (Gastaut type): a family study

artículo científico publicado en 2008

Long-term outcome of epilepsy in Kabuki syndrome.

artículo científico publicado en 2011

Mapping the Effect of Interictal Epileptic Activity Density During Wakefulness on Brain Functioning in Focal Childhood Epilepsies With Centrotemporal Spikes

scientific article published on 19 December 2019

Memory impairment and Benign Epilepsy with centrotemporal spike (BECTS): a growing suspicion.

artículo científico

Mismatch Negativity Recording in Children With Duchenne Muscular Dystrophy: A Preliminary Study Integrating Neurophysiological and Neuropsychological Results

artículo científico publicado en 2016

Neuropsychological approaches to epileptic encephalopathies

artículo científico publicado en 2013

Neuropsychological development in children belonging to BECTS spectrum: long-term effect of epileptiform activity

artículo científico publicado en 2013

Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS).

artículo científico publicado en 2006

Neuropsychological profile in new-onset benign epilepsy with centrotemporal spikes (BECTS): Focusing on executive functions

artículo científico publicado en 2015

Oxidative Stress and Erythrocyte Membrane Alterations in Children with Autism: Correlation with Clinical Features

artículo científico publicado en 2013

Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome

artículo científico publicado en 2010

Partial seizures with affective semiology versus pavor nocturnus

artículo científico publicado en 2010

Progressive myoclonic epilepsies: definitive and still undetermined causes.

scientific article published on 02 January 2014

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Adverse cognitive and behavioural effects of antiepileptic drugs in children

artículo científico publicado en 2016

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Anxiety, depression and childhood epilepsy

artículo científico publicado en 2016

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Behavioural and psychiatric disorders associated with childhood epilepsy syndromes

artículo científico publicado en 2016

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Behavioural effects of epilepsy surgery

artículo científico publicado en 2016

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Epidemiology of psychiatric/behavioural disorder in children with epilepsy

artículo científico publicado en 2016

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Epilepsy and ADHD.

artículo científico publicado en 2016

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Epilepsy and autism.

artículo científico publicado en 2016

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Epilepsy and psychosis in children and teenagers

artículo científico publicado en 2016

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Subtle behavioural and cognitive manifestations of epilepsy in children

artículo científico publicado en 2016

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): When should pharmacotherapy for psychiatric/behavioural disorders in children with epilepsy be prescribed?

artículo científico publicado en 2016

Psychiatric and Behavioural Disorders in Children with Epilepsy: an ILAE Task Force Report

artículo científico publicado en 2016

Reflex myoclonic epilepsy in infancy: a multicenter clinical study.

artículo científico publicado en 2012

Refractory absence seizures: An Italian multicenter retrospective study.

artículo científico publicado en 2015

Short-term nonhormonal and nonsteroid treatment in West syndrome

artículo científico publicado en 2003

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

scientific article published in 2006

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

artículo científico publicado en 2015

The cognitive effects of oxcarbazepine versus carbamazepine or valproate in newly diagnosed children with partial seizures.

artículo científico publicado en 2007

The localizing value of epileptic auras: pitfalls in semiology and involved networks

artículo científico publicado en 2019

The ring 14 syndrome

artículo científico publicado en 2012

The ring 14 syndrome: Clinical and molecular definition

article published in 2009

The spectrum of idiopathic Rolandic epilepsy syndromes and idiopathic occipital epilepsies: from the benign to the disabling

artículo científico publicado en 2006

Typical absence seizures associated with localization-related epilepsy: a clinical and electroencephalographic characterization

scientific article published on 01 August 2005

Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases

article

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases

artículo científico publicado en 2012

West syndrome in three patients with brain injury and a benign course

artículo científico publicado en 2017

Lista de obras de

"Minimal" holoprosencephaly in a 14q deletion syndrome patient.

A reflection on the role of genetics in the concept of "epileptic encephalopathy", as emerged from the most recent ILEA classification of epilepsy

Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients

Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy.

Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy

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

Can ACTH therapy improve the long-term outcome of drug-resistant frontal lobe epilepsy?

Catatonic psychosis related to forced normalization in a girl with Dravet's syndrome.

Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma

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

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

Coeliac disease, epilepsy and cerebral calcifications

Comparing cortical auditory processing in children with typical and atypical benign epilepsy with centrotemporal spikes: Electrophysiologic evidence of the role of non-rapid eye movement sleep abnormalities

Corrigendum to “Lacosamide in pediatric and adult patients: Comparison of efficacy and safety” [Seizure 22 (2013) 210–216]

Corrigendum to “Reflex myoclonic epilepsy in infancy: A multicenter clinical study” [Epilepsy Res. 103 (2013) 237–244]

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Diagnosis and treatment of the first epileptic seizure: guidelines of the Italian League against Epilepsy

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

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

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

Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

Epilepsy and vaccinations: Italian guidelines

Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients

Epilepsy, cerebral calcifications, and gluten-related disorders: Are anti-transglutaminase 6 antibodies the missing link?

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults ⬇️

Extrastriate visual cortex in idiopathic occipital epilepsies: The contribution of retinotopic areas to spike generation

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

Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Hemispherotomy in Rasmussen encephalitis: long-term outcome in an Italian series of 16 patients.

Ictal EEG patterns in epilepsy with centro-temporal spikes

Idiopathic generalized epilepsies of adolescence

Lack of SCN1A mutations in familial febrile seizures

Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood

Lacosamide in pediatric and adult patients: comparison of efficacy and safety.

Late-onset childhood occipital epilepsy (Gastaut type): a family study

Long-term outcome of epilepsy in Kabuki syndrome.

Mapping the Effect of Interictal Epileptic Activity Density During Wakefulness on Brain Functioning in Focal Childhood Epilepsies With Centrotemporal Spikes

Memory impairment and Benign Epilepsy with centrotemporal spike (BECTS): a growing suspicion.

Mismatch Negativity Recording in Children With Duchenne Muscular Dystrophy: A Preliminary Study Integrating Neurophysiological and Neuropsychological Results

Neuropsychological approaches to epileptic encephalopathies

Neuropsychological development in children belonging to BECTS spectrum: long-term effect of epileptiform activity

Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS).

Neuropsychological profile in new-onset benign epilepsy with centrotemporal spikes (BECTS): Focusing on executive functions

Oxidative Stress and Erythrocyte Membrane Alterations in Children with Autism: Correlation with Clinical Features

Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome

Partial seizures with affective semiology versus pavor nocturnus

Progressive myoclonic epilepsies: definitive and still undetermined causes.

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Adverse cognitive and behavioural effects of antiepileptic drugs in children

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Anxiety, depression and childhood epilepsy

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Behavioural and psychiatric disorders associated with childhood epilepsy syndromes

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Behavioural effects of epilepsy surgery

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Epidemiology of psychiatric/behavioural disorder in children with epilepsy

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Epilepsy and ADHD.

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Epilepsy and autism.

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Epilepsy and psychosis in children and teenagers

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Subtle behavioural and cognitive manifestations of epilepsy in children

Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): When should pharmacotherapy for psychiatric/behavioural disorders in children with epilepsy be prescribed?

Psychiatric and Behavioural Disorders in Children with Epilepsy: an ILAE Task Force Report

Reflex myoclonic epilepsy in infancy: a multicenter clinical study.

Refractory absence seizures: An Italian multicenter retrospective study.

Short-term nonhormonal and nonsteroid treatment in West syndrome

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

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

The cognitive effects of oxcarbazepine versus carbamazepine or valproate in newly diagnosed children with partial seizures.

The localizing value of epileptic auras: pitfalls in semiology and involved networks

The ring 14 syndrome

The ring 14 syndrome: Clinical and molecular definition

The spectrum of idiopathic Rolandic epilepsy syndromes and idiopathic occipital epilepsies: from the benign to the disabling

Typical absence seizures associated with localization-related epilepsy: a clinical and electroencephalographic characterization

Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases

West syndrome in three patients with brain injury and a benign course