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Lista de obras de Pasquale Striano

A clinical and genetic study of 33 new cases with early-onset absence epilepsy

artículo científico publicado en 2011

A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine

artículo científico publicado en 2019

A reappraisal of atypical absence seizures in children and adults: therapeutic implications

scientific article published on 24 August 2019

A reappraisal of the value of video-EEG recording in the emergency department

scientific article published on 04 April 2020

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

Adjunctive Rufinamide in Children with Lennox-Gastaut Syndrome: A Literature Review

scientific article published on 05 February 2020

Advances in genetic testing and optimization of clinical management in children and adults with epilepsy

artículo científico publicado en 2020

Alterations in the α2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.

artículo científico publicado en 2017

An international pilot study of an Internet-based platform to facilitate clinical research in epilepsy: the EpiNet project

artículo científico publicado en 2012

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

artículo científico publicado en 2008

Assessing the landscape of STXBP1-related disorders in 534 individuals

artículo científico publicado en 2022

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

artículo científico publicado en 2011

Autosomal dominant lateral temporal epilepsy: Absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins

artículo científico publicado en 2008

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

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

artículo científico publicado en 2007

Cannabidiol Determination on Peripheral Capillary Blood Using a Microsampling Method and Ultra-High-Performance Liquid Chromatography Tandem Mass Spectrometry with On-Line Sample Preparation

artículo científico publicado en 2020

Cannabidiol efficacy and clobazam status: A systematic review and meta-analysis

scientific article published on 26 May 2020

Characterization of a recurrent 15q24 microdeletion syndrome.

artículo científico publicado en 2007

Clinical features and evolution of the gelastic seizures-hypothalamic hamartoma syndrome

artículo científico publicado en 2017

Clinical reappraisal of the influence of drug-transporter polymorphisms in epilepsy

artículo científico publicado en 2018

Co-occurring malformations of cortical development and SCN1A gene mutations

artículo científico publicado en 2014

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

artículo científico publicado en 2013

Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy

scientific article published on 04 July 2019

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis

artículo científico

Control of backbone chemistry and chirality boost oligonucleotide splice switching activity

artículo científico publicado en 2022

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

artículo científico publicado en 2013

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

artículo científico publicado en 2014

De novo variants in neurodevelopmental disorders with epilepsy

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Defining the phenotypic spectrum of SLC6A1 mutations

artículo científico publicado en 2018

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

artículo científico publicado en 2020

Diagnostic implications of genetic copy number variation in epilepsy plus

artículo científico publicado en 2019

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development

artículo científico publicado en 2019

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

artículo científico publicado en 2013

Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome.

artículo científico publicado en 2013

Emerging drugs for the treatment of Dravet syndrome

scientific article published on 04 December 2018

Emerging treatments for progressive myoclonus epilepsies

scientific article published on 17 March 2020

EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process.

artículo científico publicado en 2017

Epilepsy and chromosome 18 abnormalities: A review

artículo científico publicado en 2015

Epilepsy in cerebrovascular diseases: Review of experimental and clinical data with meta-analysis of risk factors.

artículo científico publicado en 2016

Epilepsy in patients with Cornelia de Lange syndrome: a clinical series.

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

artículo científico publicado en 2013

Erratum to: Long-term outcome of epilepsy in patients with Prader–Willi syndrome

artículo científico publicado en 2015

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy

artículo científico publicado en 2021

Exploring treatments for drooling in children with neurological disorders

artículo científico publicado en 2020

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

artículo científico publicado en 2013

From Genetic Testing to Precision Medicine in Epilepsy

artículo científico publicado en 2020

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.

artículo científico publicado en 2015

Gain-of-function HCN2 variants in genetic epilepsy.

artículo científico publicado en 2017

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

artículo científico publicado en 2022

Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series

scientific article published on 15 August 2014

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

artículo científico publicado en 2017

Genetic epileptic encephalopathies: is all written into the DNA?

artículo científico publicado en 2013

Genetic heterogeneity in infantile spasms

scientific article published on 29 July 2019

Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Genetics of reflex seizures and epilepsies in humans and animals.

artículo científico publicado en 2016

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

artículo científico publicado en 2012

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Genomic and clinical predictors of lacosamide response in refractory epilepsies

artículo científico publicado en 2019

Gut microbiota and psychogenic non-epileptic seizures: i can feel it in the belly

artículo científico publicado en 2019

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

artículo científico publicado en 2018

How to select the appropriate pharmacotherapy for absence seizures in children

artículo científico publicado en 2018

Ictal epileptic headache: an old story with courses and appeals

artículo científico publicado en 2012

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

artículo científico publicado en 2016

Intestinal inflammation increases convulsant activity and reduces antiepileptic drug efficacy in a mouse model of epilepsy

scientific article published on 27 September 2019

Intramuscular Midazolam for treatment of Status Epilepticus

artículo científico publicado en 2020

Intravenous carbamazepine for the treatment of epilepsy.

artículo científico publicado en 2018

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

artículo científico publicado en 2019

Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Lateralizing value of the auditory aura in partial seizures.

artículo científico publicado en 2006

Long-term outcome of epilepsy in patients with Prader-Willi syndrome.

artículo científico publicado en 2014

Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.

artículo científico publicado en 2013

Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.

artículo científico publicado en 2013

Medical management for neurosurgical related seizures

artículo científico

Microbiota-gut brain axis involvement in neuropsychiatric disorders

artículo científico publicado en 2019

Moving beyond sodium valproate: choosing the right anti-epileptic drug in children

artículo científico publicado en 2019

Mutations in KCNT1 cause a spectrum of focal epilepsies.

artículo científico publicado en 2015

Mutations in MICAL-1 cause autosomal dominant lateral temporal epilepsy.

artículo científico publicado en 2018

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

artículo científico publicado en 2015

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease

artículo científico publicado en 2018

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

artículo científico publicado en 2019

Novel therapeutic options for Dravet and Lennox-Gastaut syndrome

scientific article published on 09 December 2020

Pediatric status epilepticus: improved management with new drug therapies?

artículo científico publicado en 2017

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

scientific journal article

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

artículo científico publicado en 2016

Practical use of pharmaceutically purified oral cannabidiol in Dravet syndrome and Lennox-Gastaut syndrome

artículo científico publicado en 2020

Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy

artículo científico publicado en 2016

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

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

Risk factors for unprovoked epileptic seizures in multiple sclerosis: a systematic review and meta-analysis

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants

scientific article published on 21 March 2022

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

artículo científico publicado en 2016

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

artículo científico publicado en 2010

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

artículo científico publicado en 2017

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project

artículo científico publicado en 2020

Teaching Video NeuroImage: Spasmus Nutans, an Infantile Nystagmus

artículo científico publicado en 2022

Testing association of rare genetic variants with resistance to three common antiseizure medications

artículo científico publicado en 2020

The ENIGMA-Epilepsy working group: Mapping disease from large data sets

artículo científico publicado en 2020

The impact of perampanel and targeting AMPA transmission on anti-seizure drug discovery

scientific article published on 11 January 2019

The landscape of epilepsy-related GATOR1 variants

artículo científico publicado en 2018

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

artículo científico publicado en 2015

The saga of Eluana Englaro: another tragedy feeding the media

artículo científico publicado en 2009

The spectrum of intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy

artículo científico publicado en 2014

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

artículo científico publicado en 2018

White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study

artículo científico publicado en 2020

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