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List of works by Nicola Specchio

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The phenotypic spectrum of SCN8A encephalopathy

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

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

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

scientific article published on 4 March 2017
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

scientific article published on 12 March 2009
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

scientific article published on 29 January 2013
Study of Intraventricular Cerliponase Alfa for CLN2 Disease.

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

scientific article published on 11 June 2012
An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy

scientific article published on 16 July 2007
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

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

scientific article published on 10 April 2009
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

scientific article published on 22 March 2007
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

scientific article
West syndrome associated with 14q12 duplications harboring FOXG1

scientific article published on 2 May 2011
Two years' follow-up of rivastigmine treatment in Huntington disease.

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

scientific article
PCDH19-related epilepsy in two mosaic male patients.

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

scientific article published on 21 October 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
A novel SCN2A mutation in family with benign familial infantile seizures

scientific article published on 01 January 2006
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

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

scientific article published in January 2011
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
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
Panayiotopoulos syndrome: a clinical, EEG, and neuropsychological study of 93 consecutive patients.

scientific article
Management Strategies for CLN2 Disease.

scientific article published on 4 February 2017
Efficacy of levetiracetam in Huntington disease

scientific article published in November 2005
Parry-Romberg syndrome and Rasmussen encephalitis: possible association. Clinical and neuroimaging features.

scientific article
The phenotype of SCN8A developmental and epileptic encephalopathy

scientific article published on 31 August 2018
Documentation of autonomic seizures and autonomic status epilepticus with ictal EEG in Panayiotopoulos syndrome.

scientific article published on 24 August 2010
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.

scientific article published on 6 September 2012
Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation.

scientific article
Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018
Seizing control of epileptic activity can improve outcome

scientific article
Cognitive development in females with PCDH19 gene-related epilepsy

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

scientific article published in October 2011
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

scientific article published on 15 February 2017
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
Vagus nerve stimulation in refractory epilepsy: new indications and outcome assessment

scientific article published on 6 July 2013
Epilepsy in ring 14 chromosome syndrome.

scientific article
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
Therapeutic approach to epileptic encephalopathies

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

scientific article published on 25 July 2016
Claustrum damage and refractory status epilepticus following febrile illness

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

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

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

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

scientific article published on 19 January 2009
Epileptic encephalopathy

scientific article published on 31 December 2012
Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.

scientific article published on 4 May 2017

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