Lista de obras -

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

artículo científico publicado en 2014

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

artículo científico publicado en 2018

Acute intralesional recording in hypothalamic hamartoma: description of 4 cases.

artículo científico publicado en 2014

Alternating hemiplegia of childhood

artículo científico publicado en 2013

Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity

artículo científico publicado en 2001

Benign idiopathic partial epilepsies in infancy

artículo científico publicado en 2001

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

artículo científico publicado en 2007

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

artículo científico publicado en 2018

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Chronic paroxysmal hemicrania in paediatric age: report of two cases ⬇️

artículo científico publicado el 22 de febrero de 2011

Clinical Reasoning: A girl presenting with stiffness episodes during sleep, café-au-lait spots, and flecked retina ⬇️

artículo científico publicado el 29 de enero de 2013

Clinical features, anger management and anxiety: a possible correlation in migraine children

artículo científico publicado en 2013

Clinical studies and anti-inflammatory mechanisms of treatments

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Cognitive development in females with PCDH19 gene-related epilepsy

artículo científico publicado en 2014

Convulsions associated with gastroenteritis in the spectrum of benign focal epilepsies in infancy: 30 cases including four cases with ictal EEG recording

artículo científico publicado el 23 de noviembre de 2010

Current role of perampanel in pediatric epilepsy.

artículo científico

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

artículo científico publicado en 2018

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

artículo científico publicado en 2020

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

artículo científico publicado en 2016

Dravet syndrome: Treatment options and management of prolonged seizures

artículo científico publicado en 2019

Dyskinesia as a new adverse effect of hormonal treatment in West syndrome

artículo científico publicado en 2014

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

Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.

artículo científico publicado en 2014

Epileptic Spasms and Partial Seizures as a Single Ictal Event ⬇️

artículo científico publicado el 1 de mayo de 2003

Everolimus Alleviates Obstructive Hydrocephalus due to Subependymal Giant Cell Astrocytomas

artículo científico publicado en 2017

Extending the use of stiripentol to other epileptic syndromes: a case of PCDH19-related epilepsy

artículo científico publicado en 2014

Febrile infection-related epilepsy syndrome (FIRES) with super-refractory status epilepticus revealing autoimmune encephalitis due to GABAAR antibodies

artículo científico publicado en 2017

Focal seizures versus epileptic spasms in children with focal cortical dysplasia and epilepsy onset in the first year

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia

artículo científico publicado en 2013

Ictal vomiting as a sign of temporal lobe epilepsy confirmed by stereo-EEG and surgical outcome

artículo científico publicado en 2015

Immuno‐ and antiinflammatory therapies in epileptic disorders ⬇️

artículo científico publicado el 1 de mayo de 2011

Laser evoked potentials in primary headaches: a possible clinical or research tool?

artículo científico publicado en 2006

Levetiracetam in juvenile myoclonic epilepsy: long-term efficacy in newly diagnosed adolescents.

artículo científico publicado en 2008

Long-term follow-up in children with benign convulsions associated with gastroenteritis

artículo científico publicado en 2014

Maternal Alexithymia and Attachment Style: Which Relationship with Their Children's Headache Features and Psychological Profile?

artículo científico publicado en 2017

Midazolam vs diazepam in prolonged seizures in children: A pharmacoeconomic approach

artículo científico publicado en 2017

Migraine equivalents and related symptoms, psychological profile and headache features: which relationship?

artículo científico publicado en 2015

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

artículo científico publicado en 2016

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene

artículo científico publicado en 2020

Neurophysiology of spasms

artículo científico publicado en 2001

Non-motor symptoms in movement disorders: more than meets the eye

artículo científico publicado en 2020

O016. Does migraine follow benign paroxysmal torticollis?

artículo científico

O019. Headache as an emergency in children and adolescents

artículo científico publicado en 2015

Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience

artículo científico publicado en 2019

P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report

artículo científico

PCDH19-related epilepsy in two mosaic male patients.

artículo científico publicado en 2016

PRRT2 is mutated in familial and non-familial benign infantile seizures

artículo científico publicado en 2012

Paediatric anti-N-methyl-D-aspartate receptor encephalitis: The first Italian multicenter case series

artículo científico publicado en 2015

Pediatric status epilepticus: Identification of prognostic factors using the new ILAE classification after 5 years of follow-up

scientific article published on 12 November 2019

Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease

artículo científico publicado en 2017

Primary headache pathophysiology in children: The contribution of clinical neurophysiology ⬇️

artículo científico publicado el 5 de junio de 2013

Reflex myoclonic epilepsy in infancy: a multicenter clinical study.

artículo científico publicado en 2012

Role of the Attachment Style in Determining the Association Between Headache Features and Psychological Symptoms in Migraine Children and Adolescents. An Analytical Observational Case-Control Study

artículo científico publicado en 2017

Rufinamide efficacy and safety as adjunctive treatment in children with focal drug resistant epilepsy: the first Italian prospective study

artículo científico publicado en 2012

Rufinamide for the treatment of refractory epilepsy secondary to neuronal migration disorders

artículo científico publicado en 2014

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

artículo científico publicado en 2003

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

artículo científico publicado en 2011

Successful use of fenfluramine in nonconvulsive status epilepticus of Dravet syndrome

artículo científico publicado en 2020

The long-term use of felbamate in children with severe refractory epilepsy ⬇️

artículo científico publicado el 1 de noviembre de 2001

The phenotype of SCN8A developmental and epileptic encephalopathy

artículo científico publicado en 2018

Therapeutic approach to epileptic encephalopathies

artículo científico publicado en 2013

Triptans other than sumatriptan in child and adolescent migraine: literature review ⬇️

artículo científico publicado el 1 de marzo de 2011

Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome).

artículo científico publicado en 2001

Vigabatrin efficacy in GPR56-associated polymicrogyria: The role of GABAA receptor pathway

artículo científico publicado en 2016

White matter disruption is associated with persistent seizures in tuberous sclerosis complex.

artículo científico publicado en 2016

Lista de obras de

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

Acute intralesional recording in hypothalamic hamartoma: description of 4 cases.

Alternating hemiplegia of childhood

Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity

Benign idiopathic partial epilepsies in infancy

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

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Chronic paroxysmal hemicrania in paediatric age: report of two cases ⬇️

Clinical Reasoning: A girl presenting with stiffness episodes during sleep, café-au-lait spots, and flecked retina ⬇️

Clinical features, anger management and anxiety: a possible correlation in migraine children

Clinical studies and anti-inflammatory mechanisms of treatments

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

Cognitive development in females with PCDH19 gene-related epilepsy

Convulsions associated with gastroenteritis in the spectrum of benign focal epilepsies in infancy: 30 cases including four cases with ictal EEG recording

Current role of perampanel in pediatric epilepsy.

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

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

Dravet syndrome: Treatment options and management of prolonged seizures

Dyskinesia as a new adverse effect of hormonal treatment in West syndrome

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

Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.

Epileptic Spasms and Partial Seizures as a Single Ictal Event ⬇️

Everolimus Alleviates Obstructive Hydrocephalus due to Subependymal Giant Cell Astrocytomas

Extending the use of stiripentol to other epileptic syndromes: a case of PCDH19-related epilepsy

Febrile infection-related epilepsy syndrome (FIRES) with super-refractory status epilepticus revealing autoimmune encephalitis due to GABAAR antibodies

Focal seizures versus epileptic spasms in children with focal cortical dysplasia and epilepsy onset in the first year

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.

Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia

Ictal vomiting as a sign of temporal lobe epilepsy confirmed by stereo-EEG and surgical outcome

Immuno‐ and antiinflammatory therapies in epileptic disorders ⬇️

Laser evoked potentials in primary headaches: a possible clinical or research tool?

Levetiracetam in juvenile myoclonic epilepsy: long-term efficacy in newly diagnosed adolescents.

Long-term follow-up in children with benign convulsions associated with gastroenteritis

Maternal Alexithymia and Attachment Style: Which Relationship with Their Children's Headache Features and Psychological Profile?

Midazolam vs diazepam in prolonged seizures in children: A pharmacoeconomic approach

Migraine equivalents and related symptoms, psychological profile and headache features: which relationship?

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene

Neurophysiology of spasms

Non-motor symptoms in movement disorders: more than meets the eye

O016. Does migraine follow benign paroxysmal torticollis?

O019. Headache as an emergency in children and adolescents

Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience

P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report

PCDH19-related epilepsy in two mosaic male patients.

PRRT2 is mutated in familial and non-familial benign infantile seizures

Paediatric anti-N-methyl-D-aspartate receptor encephalitis: The first Italian multicenter case series

Pediatric status epilepticus: Identification of prognostic factors using the new ILAE classification after 5 years of follow-up

Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease

Primary headache pathophysiology in children: The contribution of clinical neurophysiology ⬇️

Reflex myoclonic epilepsy in infancy: a multicenter clinical study.

Role of the Attachment Style in Determining the Association Between Headache Features and Psychological Symptoms in Migraine Children and Adolescents. An Analytical Observational Case-Control Study

Rufinamide efficacy and safety as adjunctive treatment in children with focal drug resistant epilepsy: the first Italian prospective study

Rufinamide for the treatment of refractory epilepsy secondary to neuronal migration disorders

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

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

Successful use of fenfluramine in nonconvulsive status epilepticus of Dravet syndrome

The long-term use of felbamate in children with severe refractory epilepsy ⬇️

The phenotype of SCN8A developmental and epileptic encephalopathy

Therapeutic approach to epileptic encephalopathies

Triptans other than sumatriptan in child and adolescent migraine: literature review ⬇️

Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome).

Vigabatrin efficacy in GPR56-associated polymicrogyria: The role of GABAA receptor pathway

White matter disruption is associated with persistent seizures in tuberous sclerosis complex.