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Publications by Carla Marini

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American Journal of Human Genetics

English

Clinical Spectrum of STX1B-related Epileptic Disorders

English

Clinical and Genetic Factors Predicting Dravet Syndrome in Infants With SCN1A Mutations

English

Contribution of Ultrarare Variants in mTOR Pathway Genes to Sporadic Focal Epilepsies

Annals of Clinical and Translational Neurology

English

Clinical Features and Outcome of 6 New Patients Carrying De Novo KCNB1 Gene Mutations

Neurology: Genetics

English

Pitfalls in Genetic Testing: The Story of missedSCN1Amutations

Molecular genetics & genomic medicine

Molecular Biology

English

Idiopathic Epilepsies With Seizures Precipitated by Fever andSCN1AAbnormalities

English

Antibody Response in Sheep Experimentally Infected With Different Small Ruminant Lentivirus Genotypes

Veterinary Immunology and Immunopathology

English