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Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal.

Seizure - 1 Jul 2024

Scorrano Giovanna, Dono Fedele, Corniello Clarissa, Evangelista Giacomo, Chiarelli Francesco, Sensi Stefano L

Abstract excerpt

BACKGROUND: The proline-rich transmembrane protein 2 (PRRT2) is a synaptic protein involved in neurotransmitter vesicle release. PRRT2 protein is highly expressed in the cerebellum, cerebral cortex, basal ganglia, and hippocampus. Variants in PRRT2 have been identified as a cause of several neurological disorders, including epilepsy, movement disorders, and headache. METHODS: We report two families carrying two...

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Identifiers

PMID: 38749256
DOI: 10.1016/j.seizure.2024.04.019

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