What is she best known for?
The fields of study she is best known for:
Carla Marini mainly investigates Epilepsy, Genetics, Pediatrics, Pathology and Internal medicine.
Her studies in Epilepsy integrate themes in fields like Missense mutation, Encephalopathy, Electroencephalography, Gene mutation and Age of onset.
Her research in Genetics intersects with topics in Childhood absence epilepsy, Dravet syndrome and Myoclonic epilepsy.
Her studies deal with areas such as Differential diagnosis and Psychiatry as well as Pediatrics.
Her study looks at the relationship between Pathology and fields such as Polymicrogyria, as well as how they intersect with chemical problems.
Her research investigates the connection with Internal medicine and areas like Endocrinology which intersect with concerns in Recien nacido, Infantile seizures, NAV1.2 Voltage-Gated Sodium Channel and Epilepsy frontal lobe.
Her most cited work include:
- Mutant GABA A receptor γ2-subunit in childhood absence epilepsy and febrile seizures (673 citations)
- Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations (249 citations)
- Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. (219 citations)
What are the main themes of her work throughout her whole career to date?
Her primary areas of study are Epilepsy, Genetics, Pediatrics, Missense mutation and Internal medicine.
Her Epilepsy research is multidisciplinary, incorporating elements of Phenotype, Proband and Electroencephalography.
In her research on the topic of Pediatrics, Carbamazepine is strongly related with Status epilepticus.
Her Missense mutation research includes themes of Exome sequencing, Epilepsy syndromes and Generalized epilepsy.
Her Internal medicine study combines topics in areas such as Gastroenterology and Endocrinology.
Her study in Dravet syndrome is interdisciplinary in nature, drawing from both SCN1B and Myoclonic epilepsy.
She most often published in these fields:
- Epilepsy (66.27%)
- Genetics (35.54%)
- Pediatrics (25.30%)
What were the highlights of her more recent work (between 2018-2021)?
- Epilepsy (66.27%)
- Missense mutation (18.07%)
- Genetics (35.54%)
In recent papers she was focusing on the following fields of study:
Carla Marini mostly deals with Epilepsy, Missense mutation, Genetics, Pediatrics and Phenotype.
Her work carried out in the field of Epilepsy brings together such families of science as Etiology, Cohort and Bioinformatics.
Her Missense mutation study integrates concerns from other disciplines, such as Exome sequencing, Exon, Internal medicine and Phylogenetic tree.
Her research integrates issues of Juvenile myoclonic epilepsy and Myoclonic epilepsy in her study of Genetics.
Her Pediatrics study incorporates themes from Genetic counseling, Epileptic spasms, Autism spectrum disorder and Dravet syndrome.
Her Phenotype research includes themes of Α subunit, Functional studies and Intellectual disability.
Between 2018 and 2021, her most popular works were:
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. (78 citations)
- The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. (27 citations)
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy (27 citations)
In her most recent research, the most cited papers focused on:
Her primary areas of study are Epilepsy, Missense mutation, Genetics, STXBP1 and Bioinformatics.
Her study in Epilepsy is interdisciplinary in nature, drawing from both Comparative genomic hybridization, SNP array, Genotype, Genetic heterogeneity and Movement disorders.
Her Genetic heterogeneity research incorporates themes from ATP1A3, Proband, Microcephaly, BRAT1 and Epileptic spasms.
Her work deals with themes such as Exome sequencing, Leukoencephalopathy, Endocrinology and Generalized epilepsy, which intersect with Missense mutation.
Her work in the fields of Genetics, such as Phenotype and Candidate gene, intersects with other areas such as Copy-number variation.
The Bioinformatics study combines topics in areas such as Developmental regression, Incidence, Cohort and GNAO1.
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