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’, ...

Amedeo Bianchi: Expert Impact

Concepts for which Amedeo Bianchi has direct influence: Gabaa receptors , Genetic generalized epilepsies , Patients epilepsy , Polg mutations , Absence epilepsy , Cnvs epilepsy , Genetic testing .

Amedeo Bianchi: KOL impact

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

KOL Resume for Amedeo Bianchi

Year
2017

Department of Neuroscience, Hospital, Arezzo, Italy

2013

Hospital “S. Donato” Division of Neurology Arezzo Italy

2012

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

EPICURE Consortium, Participating Groups are Listed in the Appendix

2011

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

2003

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

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 ...
Known for Genetic Testing | Benign Familial | Kcnq2 Kcnq3 | Age Onset
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 ...
Known for Gabaa Receptors | Genes Encoding | Case Control | Genetic Variants
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 ...
Known for Patients Epilepsy | Genomic Hybridization | Rare Cnvs | Clinical Significance
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 ...
Known for Genetic Generalized Epilepsies | Susceptibility Loci | Absence Epilepsy | Common Gge Syndromes
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 ...
Known for Genetic Generalized | Genome Wide | Human Pair | Absence Seizures
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 ...
Known for Polg Mutations | Clinical Phenotypes | Dna Polymerase | Catalytic Subunit
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) ...
Known for Mtor Pathway | Pathogenic Variants | Tuberous Sclerosis | Gtpase Activating
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 ...
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