List of works - Nicola Specchio

A novel SCN2A mutation in family with benign familial infantile seizures

scientific article published on 01 January 2006

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

scientific article published on 19 February 2014

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

scientific article published on 04 May 2020

A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most?

scientific article published on 23 November 2019

Abnormalities of the contingent negative variation in Huntington's disease: correlations with clinical features.

scientific article

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

scientific article published on 10 October 2014

Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation.

scientific article

An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy

scientific article published on 16 July 2007

Berardinelli-Seip syndrome and progressive myoclonus epilepsy

scientific article published on 01 February 2019

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

scientific article published on 22 March 2007

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

scientific article published on 07 August 2015

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

scientific article published on 30 March 2020

Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis.

scientific article

Claustrum damage and refractory status epilepticus following febrile illness

scientific article

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations

article

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

scientific article published on 15 February 2017

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

scientific article published in January 2011

Cognitive development in females with PCDH19 gene-related epilepsy

scientific article

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

scientific article

Corrigendum to "Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study" [Epilepsy Behav. Oct 2017; 75C:151-157].

scientific article published in March 2018

De novo Absence Status Epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort

scientific article published on 10 November 2019

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

scientific article published on 19 November 2018

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

scientific article published on 09 July 2020

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

scientific article published on 25 July 2016

Documentation of autonomic seizures and autonomic status epilepticus with ictal EEG in Panayiotopoulos syndrome.

scientific article published on 24 August 2010

EPINETLAB: A Software for Seizure-Onset Zone Identification From Intracranial EEG Signal in Epilepsy

scientific article published on 11 July 2018

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

scientific article published on 10 April 2009

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies-An Italian observational multicenter study.

scientific article published on 18 August 2016

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

scientific article

Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.

scientific article

Epilepsy in ring 14 chromosome syndrome.

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

Epileptic encephalopathy

scientific article published on 31 December 2012

Epileptic encephalopathy in children possibly related to immune-mediated pathogenesis.

scientific article published on 21 October 2009

Expanding the clinical spectrum associated with PACS2 mutations

scientific article published on 28 February 2019

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

scientific article published on 29 November 2014

Fatal Status Epilepticus in Dravet Syndrome

scientific article published on 23 November 2020

Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome?

scientific article published in October 2011

Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children.

scientific article

Focal cortical dysplasia in genetic epilepsy: new insights from PCDH19-related epilepsy.

scientific article

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

scientific article

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

scientific article

Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy

scientific article published on 04 June 2019

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

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

scientific article published on 29 January 2013

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

scientific article

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

scientific article

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

scientific article

Idiopathic West Syndrome followed by childhood absence epilepsy.

scientific article published on 21 August 2010

Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study.

scientific article published on 31 August 2017

Magnetic Resonance Fiber Tracking in a Neonate with Hemimegalencephaly

scientific article

Management Strategies for CLN2 Disease.

scientific article published on 4 February 2017

Management of status epilepticus in adults. Position paper of the Italian League against Epilepsy

scientific article published on 22 November 2019

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

scientific article published on 30 November 2016

Mutation ofCHRNA2in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy

scientific article published on 03 April 2015

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

scientific article

New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES): State of the art and perspectives.

scientific article published on 24 February 2018

New-onset refractory status epilepticus and febrile infection-related epilepsy syndrome

scientific article published on 05 May 2020

Non-epileptic paroxysmal manifestations during sleep in infancy and childhood.

scientific article

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

scientific article

Occipital seizures induced by Intermittent Photic Stimulation in Dravet syndrome

scientific article published on 05 January 2014

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

scientific article published on 16 February 2019

PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity.

scientific article published on 16 June 2016

PCDH19-related epilepsy in two mosaic male patients.

scientific article

POGZ-related epilepsy: Case report and review of the literature

scientific article published on 28 May 2019

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

scientific article published on 23 October 2020

PRRT2 mutations are the major cause of benign familial infantile seizures.

scientific article published on 11 June 2012

Panayiotopoulos syndrome: a clinical, EEG, and neuropsychological study of 93 consecutive patients.

scientific article

Parry-Romberg syndrome and Rasmussen encephalitis: possible association. Clinical and neuroimaging features.

scientific article

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

Peri-ictal water drinking: a rare automatic behaviour in temporal lobe epilepsy.

scientific article

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

scientific article

Prolonged episode of dystonia and dyskinesia resembling status epilepticus following acute intrathecal baclofen withdrawal.

scientific article

Proposed consensus definitions for new-onset refractory status epilepticus (NORSE), febrile infection-related epilepsy syndrome (FIRES), and related conditions.

scientific article published on 5 February 2018

Purified Cannabidiol for Treatment of Refractory Epilepsies in Pediatric Patients with Developmental and Epileptic Encephalopathy

scientific article published on 01 August 2019

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

scientific article

Red flags for neuronal ceroid lipofuscinosis type 2 disease

scientific article published on 01 November 2019

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.

scientific article published on 4 May 2017

Refractory focal epilepsy following acute encephalopathy with inflammation-mediated status epilepticus.

scientific article published on 30 July 2011

Rolandic epilepsy: an uncommon presentation with leg motor seizures.

scientific article published on 30 September 2010

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

scientific article published on 05 June 2012

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

scientific article published on 12 March 2009

Seizing control of epileptic activity can improve outcome

scientific article

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

Study of Intraventricular Cerliponase Alfa for CLN2 Disease.

scientific article

Successful use of fenfluramine in nonconvulsive status epilepticus of Dravet syndrome

scientific article published on 13 March 2020

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

scientific article published on 01 December 2019

The phenotype of SCN8A developmental and epileptic encephalopathy

scientific article published on 31 August 2018

The phenotypic spectrum of SCN8A encephalopathy

scientific article

The role of PCDH19 in refractory status epilepticus

scientific article published on 31 October 2019

The spectrum of benign myoclonus of early infancy: Clinical and neurophysiologic features in 102 patients.

scientific article published on 19 January 2009

Therapeutic approach to epileptic encephalopathies

scientific article

Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation

scientific article published on 26 December 2019

Two years' follow-up of rivastigmine treatment in Huntington disease.

scientific article

Vagus nerve stimulation for drug-resistant Epilepsia Partialis Continua: report of four cases.

scientific article published on 8 September 2013

Vagus nerve stimulation in refractory epilepsy: new indications and outcome assessment

scientific article published on 6 July 2013

Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data.

scientific article

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

scientific article published on 01 August 2016

West syndrome associated with 14q12 duplications harboring FOXG1

scientific article published on 2 May 2011

List of works by Nicola Specchio

A novel SCN2A mutation in family with benign familial infantile seizures

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

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most?

Abnormalities of the contingent negative variation in Huntington's disease: correlations with clinical features.

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

Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation.

An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy

Berardinelli-Seip syndrome and progressive myoclonus epilepsy

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

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

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis.

Claustrum damage and refractory status epilepticus following febrile illness

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

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

Cognitive development in females with PCDH19 gene-related epilepsy

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

Corrigendum to "Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study" [Epilepsy Behav. Oct 2017; 75C:151-157].

De novo Absence Status Epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort

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

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Defining the phenotypic spectrum of SLC6A1 mutations

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Documentation of autonomic seizures and autonomic status epilepticus with ictal EEG in Panayiotopoulos syndrome.

EPINETLAB: A Software for Seizure-Onset Zone Identification From Intracranial EEG Signal in Epilepsy

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies-An Italian observational multicenter study.

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

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

Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.

Epilepsy in ring 14 chromosome syndrome.

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

Epileptic encephalopathy

Epileptic encephalopathy in children possibly related to immune-mediated pathogenesis.

Expanding the clinical spectrum associated with PACS2 mutations

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

Fatal Status Epilepticus in Dravet Syndrome

Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome?

Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children.

Focal cortical dysplasia in genetic epilepsy: new insights from PCDH19-related epilepsy.

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

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

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.

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

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

Idiopathic West Syndrome followed by childhood absence epilepsy.

Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study.

Magnetic Resonance Fiber Tracking in a Neonate with Hemimegalencephaly

Management Strategies for CLN2 Disease.

Management of status epilepticus in adults. Position paper of the Italian League against Epilepsy

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

Mutation ofCHRNA2in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES): State of the art and perspectives.

New-onset refractory status epilepticus and febrile infection-related epilepsy syndrome

Non-epileptic paroxysmal manifestations during sleep in infancy and childhood.

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

Occipital seizures induced by Intermittent Photic Stimulation in Dravet syndrome

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

PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity.

PCDH19-related epilepsy in two mosaic male patients.

POGZ-related epilepsy: Case report and review of the literature

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

PRRT2 mutations are the major cause of benign familial infantile seizures.

Panayiotopoulos syndrome: a clinical, EEG, and neuropsychological study of 93 consecutive patients.

Parry-Romberg syndrome and Rasmussen encephalitis: possible association. Clinical and neuroimaging features.

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

Peri-ictal water drinking: a rare automatic behaviour in temporal lobe epilepsy.

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

Prolonged episode of dystonia and dyskinesia resembling status epilepticus following acute intrathecal baclofen withdrawal.

Proposed consensus definitions for new-onset refractory status epilepticus (NORSE), febrile infection-related epilepsy syndrome (FIRES), and related conditions.

Purified Cannabidiol for Treatment of Refractory Epilepsies in Pediatric Patients with Developmental and Epileptic Encephalopathy

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Red flags for neuronal ceroid lipofuscinosis type 2 disease