Pasquale Striano

Pasquale Striano

Muscular And Neurodegenerative Diseases Unit And Laboratory Of Neurogenetics (Drs P. Striano, Robbiano, Traverso, Pezzella, Falace, Gazzerro, And Zara And Mr Minetti) And ...

Direct Impact

Concepts for which Pasquale Striano has direct influence:

rolandic epilepsy
juvenile myoclonic
genetic jme
basis seizures
brainwave abnormality
attention problems

External impact

Concepts related to the work of other authors for which Pasquale Striano has influence:

gabaa receptors
exome-based case-control
genetic generalised
immunosuppressive medication
rare coding
natural history
correction to

Prominent publications by Pasquale Striano

KOL-Index: 259 BACKGROUND: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in genetic generalised epilepsy. METHODS: For this exome-based case-control study, we used three different genetic generalised ...
Known for
Enrichment | Rare Genetic | 19 Genes | Cohorts
KOL-Index: 156 Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how ...
Known for
Yield | Severe Developmental Epileptic Encephalopathies | Genic Sub-Genic Intolerance | Genes Intolerant
KOL-Index: 101 The fast diffusion of the SARS-CoV-2 pandemic have called for an equally rapid evolution of the therapeutic options.The Human recombinant monoclonal antibodies (mAbs) have recently been approved by the Food and Drug Administration (FDA) and by the Italian Medicines Agency (AIFA) in subjects aged ≥12 with SARS-CoV-2 infection and specific risk factors.Currently the indications are specific ...
Known for
Pediatrics | Criteria Aifa | Bamlanivimabetesevimab | Societies
KOL-Index: 84 Objective: We investigated the contribution to sporadic focal epilepsies (FE) of ultrarare variants in genes coding for the components of complexes regulating mechanistic Target Of Rapamycin (mTOR)complex 1 (mTORC1). Methods: We collected genetic data of 121 Italian isolated FE cases and 512 controls by Whole Exome Sequencing (WES) and single-molecule Molecular Inversion Probes (smMIPs) ...
Known for
Epilepsies | Mtorc1 | Genetic Basis | Mtor Pathway Complexes Gator
KOL-Index: 79 The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify ...
Known for
Role Genetics | Future Genetic Discoveries | Genome-Wide Meta-Analyses | Body-Mass
KOL-Index: 65 BACKGROUND: Pathogenic variants of GNB5 encoding the β5 subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularly severe bradycardia. METHODS: We used echocardiography and telemetric ECG recordings to investigate consequences of Gnb5 loss in mouse. ...
Known for
Pathogenic | Protein Iddca | Telemetric Ecg Recordings | Cardiac Function
KOL-Index: 44 OBJECTIVE: We aimed to identify genes associated with genetic generalized epilepsy (GGE) by combining large cohorts enriched with individuals with a positive family history. Secondarily, we set out to compare the association of genes independently with familial and sporadic GGE. METHODS: We performed a case-control whole exome sequencing study in unrelated individuals of European descent ...
Known for
Ultra-Rare | Ancestry-Matched | Epilepsy Gge | Fdr Urvs
KOL-Index: 35 The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE), myoclonic astatic epilepsy (MAE), and genetic ...
Known for
Mutations Absence | Early Onset | Danish | 37
KOL-Index: 29 An international workshop on juvenile myoclonic epilepsy (JME) was conducted in Avignon, France in May 2011. During that workshop, a group of 45 experts on JME, together with one of the founding fathers of the syndrome of JME ("Janz syndrome"), Prof. Dr. Dieter Janz from Berlin, reached a consensus on diagnostic criteria and management of JME. The international experts on JME proposed two ...
Known for
Occurring | Workshop | Diagnostic Criteria | Sleep Deprivation
KOL-Index: 29 OBJECTIVE: Paroxysmal epileptiform abnormalities on electroencephalography (EEG) are the hallmark of epilepsies, but it is uncertain to what extent epilepsy and background EEG oscillations share neurobiological underpinnings. Here, we aimed to assess the genetic correlation between epilepsy and background EEG oscillations. METHODS: Confounding factors, including the heterogeneous etiology of ...
Known for
Alpha | Abnormalities | Strong Genetic Correlations | Higher

Muscular and Neurodegenerative Diseases Unit and Laboratory of Neurogenetics (Drs P. Striano, Robbiano, Traverso, Pezzella, Falace, Gazzerro, and Zara and Mr Minetti) and Epidemiology and Statistics Unit (Dr Galasso), Institute G. Gaslini, University

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