Article
Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels.
Neurobiology of disease - 1 Jul 2023
Sterlini Bruno, Franchi Francesca, Morinelli Lisastella, Corradi Beatrice, Parodi Chiara, Albini Martina, Bianchi Alessandra, Marte Antonella, Baldelli Pietro, Alberini Giulio, Maragliano Luca, Valente Pierluigi, Benfenati Fabio, Corradi Anna
Abstract excerpt
PRRT2 is a neuronal protein that controls neuronal excitability and network stability by modulating voltage-gated Na+ channel (Nav). PRRT2 pathogenic variants cause pleiotropic syndromes including epilepsy, paroxysmal kinesigenic dyskinesia and episodic ataxia attributable to loss-of-function pathogenetic mechanism. Based on the evidence that the transmembrane domain of PRRT2 interacts with Nav1.2/1.6, we focused...
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