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Publications by Barbara Castellotti
Progressive Myoclonus Epilepsy Caused by a Gain-Of-Function KCNA2 Mutation
Seizure : the journal of the British Epilepsy Association
Medicine
Neurology
Related publications
Infantile Epilepsy With Multifocal Myoclonus Caused by TBC1D24 Mutations
Seizure : the journal of the British Epilepsy Association
Medicine
Neurology
Progressive Myoclonus Epilepsy Responded to Vagus Nerve Stimulation
SAJ Case Reports
Localization of a Gene for Progressive Myoclonus Epilepsy to Chromosome 21q22.
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Cacna1gis a Genetic Modifier of Epilepsy Caused by Mutation of Voltage-Gated Sodium channelScn2a
Epilepsia
Neurology
Role of Genetic Modifiers in Lafora Progressive Myoclonus Epilepsy-A Neurodegenerative Disorder With Defects in Carbohydrate Metabolism
BMC Proceedings
Biochemistry
Medicine
Genetics
Molecular Biology
Effect of Parathyroid Hormone Administration in a Patient With Severe Hypoparathyroidism Caused by Gain-Of-Function Mutation of Calcium-Sensing Receptor
Endocrine Journal
Endocrinology
Metabolism
Diabetes
A Gain-Of-Function Mutation in theGRIK2gene Causes Neurodevelopmental Deficits
Neurology: Genetics
Neurology
Genetics
An Autopsy Case of Myoclonus Epilepsy
Kurume Medical Journal
Medicine
Phenotypic Diversity of Myoclonus Epilepsy Associated With Ragged-Red Fibers With an 8344A>G mtDNA Mutation
Internal Medicine
Internal Medicine
Medicine
