• Disease
  • Gabaa
  • Gabaa Receptors
  • Amedeo Bianchi

    Prominent publications by Amedeo Bianchi

    KOL Index score: 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 ...

    Also Ranks for: Genetic Testing |  benign familial |  kcnq2 kcnq3 |  age onset |  year life
    KOL Index score: 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 ...

    Also Ranks for: Gabaa Receptors |  genes encoding |  case control |  genetic variants |  exome sequencing
    KOL Index score: 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.


    Also Ranks for: Patients Epilepsy |  genomic hybridization |  rare cnvs |  clinical significance |  copy variations
    KOL Index score: 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 ...

    Also Ranks for: Genetic Generalized Epilepsies |  susceptibility loci |  absence epilepsy |  common gge syndromes |  genome wide
    KOL Index score: 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, ...

    Also Ranks for: Genetic Generalized |  genome wide |  human pair |  absence seizures |  myoclonic epilepsy
    KOL Index score: 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 ...

    Also Ranks for: Polg Mutations |  clinical phenotypes |  dna polymerase |  catalytic subunit |  mitochondrial diseases
    KOL Index score: 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 ...

    Also Ranks for: Mtor Pathway |  pathogenic variants |  tuberous sclerosis |  gtpase activating |  infant male
    KOL Index score: 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 ...

    Also Ranks for: Chromosome Mapping |  genetic predisposition |  gene frequency |  phenotype genotype


    Amedeo Bianchi: Influence Statistics

    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

    Key People For Gabaa Receptors

    Top KOLs in the world
    Werner Sieghart
    gabaa receptors subunit composition receptor subtypes
    Richard W Olsen
    gabaa receptors aminobutyric acid angelman syndrome
    Hanns P Möhler
    gabaa receptors benzodiazepine receptor rat brain
    Jean‐Marc Fritschy
    gabaa receptors gabaergic synapses receptor subtypes
    Peter H Seeburg
    ampa receptors rna editing gabaa receptor
    Paul John Whiting
    gabaa receptor rat brain xenopus oocytes

    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.



    Is this your profile? manage_accounts Claim your profile content_copy Copy URL code Embed Link to your profile

    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