PRESTIGIO , Cosimo

REST/NRFS (RE1-silencing transcription factor) has been initially identified as a negative transcription factor. Its target genes encode postsynaptic receptors, ion channels and transporters, neuropeptides and synaptic proteins. Evidences show that in mature neurons, REST can be upregulated by neuronal hyperactivity and works as a master...

Heterozygous mutations in proline-rich transmembrane protein 2 (PRRT2) underlie a group of paroxysmal disorders, including epilepsy, kinesigenic dyskinesia, and migraine. Most of the mutations lead to impaired PRRT2 expression, suggesting that loss of PRRT2 function may contribute to pathogenesis. We show that PRRT2 is enriched in presynaptic...