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    • Pasquale Striano

      Pasquale Striano

      Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università degli Studi di Genova, Genova, Italy | Pediatric Neurology and ...



      KOL Resume for Pasquale Striano


      Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università degli Studi di Genova, Genova, Italy


      Pediatric Neurology Unit, Istituto Giannina Gaslini, University of Genoa, Genoa, Italy; Child Neuropsychiatry Unit, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Children's Sciences, University of Genoa, Genoa, Italy.


      Pediatric Neurology & Muscular Diseases Unit, IRCCS ‘G. Gaslini’ Institute, 16147 Genova, Italy


      Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Pediatric Neurology and Muscular Diseases Unit, G. Gaslini Institute, University of Genoa, Genova, Italy


      From the Pediatric Neurology and Muscular Diseases Unit (P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; and Department of Pediatrics and Pediatric Neurology (P.H.), Georg August University, Göttingen, Germany.

      Pediatric Neurology and Muscular Diseases Unit, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Children’s Sciences, University of Genoa, Genoa 16126, Italy


      Laboratory of Neurogenetics (P.S.), Istituto "Giannina Gaslini," Genova, Italy; and Pediatric Neurology and Muscular Diseases Unit (F.Z.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Italy.


      Authors' affiliations are listed at the end of the article.


      Institute of Pediatric Neurology and Muscular Diseases Department of Neuroscience Rehabilitation Ophthalmology Genetics and Maternal‐Infant Science Institute of G. Gaslini University of Genova Genova Italy


      University of Rome “Sapienza” II, Rome, Italy


      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 of Genova, and Laboratory of Genetics, Ente Ospedaliero Ospedali Galliera (Drs Paravidino, Malacarne, Cavani, Dagna Bricarelli, and Coviello), Genova, Epilepsy Center, Federico II University (Drs Coppola and S. Striano) and Medical Genetics, Azienda Ospedaliera di Rilievo Nazionale “A. Cardarelli” (Dr Cavaliere), Napoli, Ospedale “S. Anna,” Como (Dr Belcastro), Epilepsy Centre, San Donato Hospital, Arezzo (Dr Bianchi), Unit of Neurology (Dr Elia) and Laboratory of Genetics (Dr Fichera), Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Institute of Neurology, Magna Græcia University, Catanzaro and Regional Epilepsy Centre, Reggio Calabria (Dr Ferlazzo), Division of Child Neurology, Institute “C. Besta,” Milano (Dr Freri), Child Neurology and Psychiatry Unit, Maggiore Hospital, Bologna (Dr Gobbi), Dipartimento di Scienze Pediatriche, University of Torino, Torino (Drs Molinatto, Ferrero, and Silengo), Biologia Generale e Genetica Medica, Università di Pavia, Pavia (Dr Zuffardi), Dipartimento Materno Infantile, Università di Palermo, Palermo (Drs Benelli and Magi), and Diagnostic Genetic Unit, Careggi Hospital, Firenze (Dr Piccione), Italy


      Muscular and Neurodegenerative Disease Unit, Institute G. Gaslini, University of Genova, Genova, Italy


      Laboratory of Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Istituto “G. Gaslini,” University of Genova



      Pasquale Striano: Influence Statistics

      Sample of concepts for which Pasquale Striano is among the top experts in the world.
      Concept World rank
      epilepsy cnvs #1
      xlinked gene slc35a2 #2
      epilepsy control eegs #2
      30 unreported #2
      heterogeneity eeg features #2
      cnvs epilepsy #2
      cdgiim #2
      30 unreported individuals #2
      epilepsy abnormal frequency #2
      kin slc6 members #2
      age epoch length #2
      differences spectral density #2
      developmental spectrum disorders #2
      ninetyfive control eegs #2
      epilepsies exome #2
      control eegs addition #2
      heterogeneity resting #3
      differences restingstate eeg #3
      restingstate eeg individuals #3
      hgat1 gaba #3
      bona fide site #3
      heterogeneity eeg #3
      earlyinfantile onset epilepsy #3
      26 new variants #3
      differences epilepsy #4
      novo kcnq2 #4
      patients genotypephenotype correlations #4
      brain network ictogenicity #4
      offset cognitive outcome #4
      kcnq2 pathogenic #4
      eeg features epilepsy #4
      sequencing independent #4
      individuals gge #4
      gabrg2 gge #4
      scn1a involvement #4
      single largest study #4
      genes gabaa receptors #4
      novo kcnq2 variants #4
      restingstate eeg features #4
      genotypephenotype correlations patients #5
      epilepsy features #5
      epilepsy exome #5
      principal physiological role #5


      Prominent publications by Pasquale Striano

      KOL-Index: 14845

      Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treatment. The cause of mesial temporal lobe epilepsy with hippocampal sclerosis is unknown, but ...

      Known for Hippocampal Sclerosis | Febrile Seizures | Temporal Lobe | Scn1a Gene | Sodium Channel
      KOL-Index: 11731

      Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To identify the shared and distinct ultra-rare genetic risk factors for different types of epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,436 controls of European ancestry. We focused on three phenotypic groups: severe developmental and epileptic ...

      Known for Exome Sequencing | Genetic Variation | Genes Epilepsy | Gge Nafe | Severe Epilepsies
      KOL-Index: 11674

      Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyzed exome-sequencing data of 356 trios with the "classical" epileptic encephalopathies, infantile spasms and Lennox Gastaut syndrome, including 264 trios previously analyzed by the Epi4K/EPGP ...

      Known for Novo Mutations | Epileptic Encephalopathies | Synaptic Transmission | Genes Including | Infantile Spasms
      KOL-Index: 11147

      OBJECTIVE: We aimed to determine the type, frequency, and size of microchromosomal copy number variations (CNVs) affecting the neuronal sodium channel α 1 subunit gene (SCN1A) in Dravet syndrome (DS), other epileptic encephalopathies, and generalized epilepsy with febrile seizures plus (GEFS+).

      METHODS: Multiplex ligation-dependent probe amplification (MLPA) was applied to detect SCN1A CNVs among 289 cases (126 DS, 97 GEFS+, and 66 with other phenotypes). CNVs extending beyond SCN1A were ...

      Known for Dravet Syndrome | Molecular Diagnosis | Preschool Epilepsies | Array Cgh | Gene Scn1a
      KOL-Index: 11057

      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 epilepsy case cohorts and three independent control cohorts, all of European descent. Cases included in ...

      Known for Gabaa Receptors | Genes Encoding | Case Control | Genetic Variants | Exome Sequencing
      KOL-Index: 10722

      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 generalized epilepsy (GGE). Our study aimed to investigate the possible role of SLC2A1 in various forms ...

      Known for Slc2a1 Mutations | Absence Epilepsy | Glut1 Deficiency Syndrome | Movement Disorders | Early Onset
      KOL-Index: 10622

      Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of cases with Dravet syndrome; 90% of these mutations arise de novo. We studied a cohort of nine Dravet-syndrome-affected individuals without an SCN1A mutation (these included some atypical cases with onset at up to 2 years of age) by using whole-exome sequencing in proband-parent trios. In two ...

      Known for Dravet Syndrome | Epileptic Encephalopathy | Function Mutations | Novo Loss | Chd2 Mutation
      KOL-Index: 10296

      OBJECTIVE: To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy.

      DESIGN: Prospective cohort study.

      SETTING: Epilepsy centers in Italy.

      PATIENTS: Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization.


      Known for Patients Epilepsy | Genomic Hybridization | Rare Cnvs | Clinical Significance | Copy Variations
      KOL-Index: 9328

      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 sets of criteria, which will be helpful for both clinical and scientific purposes. Class I criteria ...

      Known for Myoclonic Jerks | Patients Jme | Age Onset | Generalized Epilepsy | Janz Syndrome
      KOL-Index: 8853

      BACKGROUND: Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients.

      METHODS: We tested for the presence of microdeletions and microduplications at a specific region of chromosome 1q21.1 in two groups of patients with unexplained mental retardation, autism, or congenital anomalies and in unaffected ...

      Known for Recurrent Rearrangements | Mental Retardation | Congenital Anomalies | Deletions Duplications | Human Genome
      KOL-Index: 8796

      PURPOSE: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial seizures, onset age from 3 to 9 months, and favorable outcome. BFIS loci were identified on chromosomes 19q12-13.1 and 16p12-q12, allelic to infantile convulsions and choreathetosis. The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS may show overlapping clinical features. Infantile seizures also were in a family ...

      Known for Infantile Seizures | Linkage Analysis | Families Bfis | Benign Familial | Human Pair
      KOL-Index: 8654

      We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted loss-of-function variants (p.Gln46Profs*9 and p.Arg97*) was further investigated in a patient's fibroblast cell line. We show that the premature stop mutations in AP4S1 result in a reduction of all AP-4 ...

      Known for Spastic Paraplegia | Developmental Delay | Ap4 Deficiency Syndrome | Protein Complex | Function Mutations

      STXBP1 encephalopathy

      KOL-Index: 8573

      OBJECTIVE: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients.

      METHODS: We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review the phenotypes of all previously reported patients.

      RESULTS: We describe the phenotypic ...

      Known for Stxbp1 Encephalopathy | Patients Epilepsy | Phenotypic Features | Intellectual Disability | Movement Disorders
      KOL-Index: 8406

      Periventricular nodular heterotopia is caused by defective neuronal migration that results in heterotopic neuronal nodules lining the lateral ventricles. Mutations in filamin A (FLNA) or ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) cause periventricular nodular heterotopia, but most patients with this malformation do not have a known aetiology. Using comparative genomic hybridization, we identified 12 patients with developmental brain abnormalities, variably ...

      Known for Periventricular Heterotopia | Deletion Syndrome | Cortical Development | 6q Terminal | Cerebellar Hypoplasia
      KOL-Index: 7958

      The developmental and epileptic encephalopathies (DEEs) are heterogeneous disorders with a strong genetic contribution, but the underlying genetic etiology remains unknown in a significant proportion of individuals. To explore whether statistical support for genetic etiologies can be generated on the basis of phenotypic features, we analyzed whole-exome sequencing data and phenotypic similarities by using Human Phenotype Ontology (HPO) in 314 individuals with DEEs. We identified a de ...

      Known for Adaptor Protein | Mediated Endocytosis | Ap2 Complex | Neurodevelopmental Disorders | Phenotypic Features

      Key People For Hippocampal Sclerosis

      Top KOLs in the world
      Fernando Cendes
      temporal lobe magnetic resonance hippocampal sclerosis
      John Sidney Duncan
      temporal lobe epilepsy surgery hippocampal sclerosis
      Christian Erich Elger
      temporal lobe epilepsy surgery limbic encephalitis
      Gary W Mathern
      cortical dysplasia epilepsy surgery cerebral hemispherectomy
      Dennis D Spencer†
      temporal lobe magnetic resonance hippocampal sclerosis
      Samuel Frank Berkovic
      febrile seizures hippocampal sclerosis generalized epilepsy

      Pasquale Striano:Expert Impact

      Concepts for whichPasquale Strianohas direct influence:Hippocampal sclerosis,  Genetic generalized epilepsy,  Febrile seizures,  Novo mutations,  Common epilepsies,  Gabaa receptors,  Slc2a1 mutations,  Dravet syndrome.

      Pasquale Striano:KOL impact

      Concepts related to the work of other authors for whichfor which Pasquale Striano has influence:Dravet syndrome,  Intellectual disability,  Epileptic encephalopathy,  Neurodevelopmental disorders,  Genetic testing,  Febrile seizures,  Juvenile myoclonic epilepsy.



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      Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università degli Studi di Genova, Genova, Italy | Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Via Gaslini 5, 16148,

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