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Flavia Valtorta, M.D., Ph.D. - "PRRT2: from synaptic vesicle exocytosis and actin dynamics to paroxysmal neurological disorders"

Division of Neuroscience, San Raffaele Scientific Institute, Milan
When Jun 26, 2018
from 12:00 PM to 01:30 PM
Where Tigem, Auditorium "Vesuvius"
Contact Name
Contact Phone 08119230659
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Abstract
In the past few years proline-rich transmembrane protein 2 (PRRT2) has been identified as the causative gene for several paroxysmal neurological disorders. Mutations in PRRT2 are a major cause of paroxysmal kinesigenic dyskinesia, benign infantile familial seizures and infantile seizures with choreoathetosis. Mutations in the gene are responsible also for a minor fraction of cases of other neurological disorders, such as hemiplegic migraine and episodic ataxia, which share the feature of being paroxysmal disorders.

An important role of PRRT2 in synapse development and function is emerging. PRRT2 regulates neurotransmitter release by conferring Ca2+ sensitivity to synaptic vesicle exocytosis. In addition, it orchestrates synapse formation and maturation. Loss of PRRT2 renders neuronal networks unstable, thus predisposing to paroxysmal phenomena.

The study of PRRT2 and of its mutations may help in refining our knowledge of the process of synaptic transmission and elucidating the pathogenic mechanisms leading to derangement of network function in paroxysmal disorders.

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