• Gabaa Receptors
    • Amedeo Bianchi
    • Amedeo Bianchi: Influence Statistics

      Amedeo Bianchi

      Amedeo Bianchi

      Department of Neuroscience, Hospital, Arezzo, Italy | Hospital “S. Donato” Division of Neurology Arezzo Italy | Epilepsy Center, Unit of Neurology, Hospital ‘San Donato’, ...

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      Amedeo Bianchi:Expert Impact

      Concepts for whichAmedeo Bianchihas direct influence:Gabaa receptors,Genetic generalized epilepsies,Patients epilepsy,Polg mutations,Absence epilepsy,Cnvs epilepsy,Genetic testing,Generalized epilepsy.

      Amedeo Bianchi:KOL impact

      Concepts related to the work of other authors for whichfor which Amedeo Bianchi has influence:Intellectual disability,Neonatal seizures,Common epilepsies,Epilepsy patients,Genetic testing,Prrt2 mutations,Neurodevelopmental disorders.

      KOL Resume for Amedeo Bianchi


      Department of Neuroscience, Hospital, Arezzo, Italy


      Hospital “S. Donato” Division of Neurology Arezzo Italy


      Epilepsy Center, Unit of Neurology, Hospital ‘San Donato’, Arezzo, Italy

      EPICURE Consortium, Participating Groups are Listed in the Appendix


      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


      European Consortium on the Genetics of Idiopathic Generalized Epilepsy (members of the consortium are listed in the appendix)

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      Sample of concepts for which Amedeo Bianchi is among the top experts in the world.
      Concept World rank
      epilepsies identification #34
      epilepsies year #36
      oligogenic predisposition #36
      benign familial epilepsies #42
      bfis families #47
      typical bfns #51
      bfns kcnq2 #54
      bfns families #59
      kcnq3 bfns #61
      seizures bfns #62
      mutations polg gene #64
      epilepsy discovery #73
      families scn2a #90
      genetic generalised epilepsy #98
      families prrt2 #99
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      Prominent publications by Amedeo Bianchi

      KOL-Index: 18670

      PURPOSE: To dissect the genetics of benign familial epilepsies of the first year of life and to assess the extent of the genetic overlap between benign familial neonatal seizures (BFNS), benign familial neonatal-infantile seizures (BFNIS), and benign familial infantile seizures (BFIS).

      METHODS: Families with at least two first-degree relatives affected by focal seizures starting within the first year of life and normal development before seizure onset were included. Families were ...

      Known for Genetic Testing | Benign Familial | Kcnq2 Kcnq3 | Age Onset | Year Life
      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: 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: 9506

      Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% of all epilepsies. Despite their high heritability of 80%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants shared across common GGE syndromes, we carried out a two-stage genome-wide association study (GWAS) including 3020 patients with GGEs and 3954 controls of European ancestry. To dissect out syndrome-related variants, we also explored two ...

      Known for Genetic Generalized Epilepsies | Susceptibility Loci | Absence Epilepsy | Common Gge Syndromes | Genome Wide
      KOL-Index: 7656

      PURPOSE: Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genome-wide linkage meta-analysis aimed to map: (1) susceptibility loci shared by a broad spectrum of GGEs, and (2) seizure type-related genetic factors preferentially predisposing to either typical absence or myoclonic seizures, ...

      Known for Genetic Generalized | Genome Wide | Human Pair | Absence Seizures | Myoclonic Epilepsy
      KOL-Index: 6167

      POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mtDNA) replication and repair. Mutations in POLG have been linked to a spectrum of clinical phenotypes, resulting in autosomal recessive or dominant mitochondrial diseases. These mutations have been associated with heterogeneous phenotypes, presenting with varying severity and at different ages of onset, ranging from the neonatal period to late adult life. We screened 13 patients for POLG ...

      Known for Polg Mutations | Clinical Phenotypes | Dna Polymerase | Catalytic Subunit | Mitochondrial Diseases
      KOL-Index: 3654

      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) targeting 10 genes of the GATOR1, GATOR2, and TSC complexes. We collapsed "qualifying" variants ...

      Known for Mtor Pathway | Pathogenic Variants | Tuberous Sclerosis | Gtpase Activating | Infant Male
      KOL-Index: 1285

      PURPOSE: A recent genome-wide scan revealed a major susceptibility locus for idiopathic generalized epilepsies (IGEs) in the chromosomal region 8p12 in 32 IGE families without members with juvenile myoclonic epilepsy (JME). This study explored the presence of an IGE locus in the chromosomal region 8p12.

      METHODS: Our study included 176 multiplex families of probands with common IGE syndromes. Parametric and nonparametric multipoint linkage analyses were carried out between the IGE trait ...

      Known for Chromosome Mapping | Genetic Predisposition | Gene Frequency | Phenotype Genotype

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      Department of Neuroscience, Hospital, Arezzo, Italy | Hospital “S. Donato” Division of Neurology Arezzo Italy | Epilepsy Center, Unit of Neurology, Hospital ‘San Donato’, Arezzo, Italy | EPICURE Consortium, Participating Groups are Listed in the Appe

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