2023 - Research.com Neuroscience in Italy Leader Award
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 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.
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.
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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Mutant GABA A receptor γ2-subunit in childhood absence epilepsy and febrile seizures
Robyn H. Wallace;Carla Marini;Steven Petrou;Louise A. Harkin;Louise A. Harkin.
Nature Genetics (2001)
The genetics of Dravet syndrome
Carla Marini;Ingrid E. Scheffer;Ingrid E. Scheffer;Rima Nabbout;Arvid Suls.
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
Samuel F. Berkovic;Sarah E. Heron;Lucio Giordano;Carla Marini.
Annals of Neurology (2004)
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
E. Parrini;A. Ramazzotti;W. B. Dobyns;D. Mei.
The phenotypic spectrum of SCN8A encephalopathy
Jan Larsen;Gemma L Carvill;Elena Gardella;Gerhard Kluger.
Definition and diagnostic criteria of sleep-related hypermotor epilepsy
Paolo Tinuper;Francesca Bisulli;J H Cross;Dale Hesdorffer.
Ictal bradycardia in partial epileptic seizures: Autonomic investigation in three cases and literature review.
Paolo Tinuper;F. Bisulli;A. Cerullo;R. Carcangiu.
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Richard J. Leventer;Anna Jansen;Daniela T. Pilz;Neil Stoodley.
Distinguishing Sleep Disorders From Seizures: Diagnosing Bumps in the Night
Christopher Paul Derry;Margot Davey;Murray Johns;Katie Kron.
JAMA Neurology (2006)
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities
Carla Marini;Davide Mei;Teresa Temudo;Anna Rita Ferrari.
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