Article
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.
Brain : a journal of neurology - 1 Apr 2018
Fruscione Floriana, Valente Pierluigi, Sterlini Bruno, Romei Alessandra, Baldassari Simona, Fadda Manuela, Prestigio Cosimo, Giansante Giorgia, Sartorelli Jacopo, Rossi Pia, Rubio Alicia, Gambardella Antonio, Nieus Thierry, Broccoli Vania, Fassio Anna, Baldelli Pietro, Corradi Anna, Zara Federico, Benfenati Fabio
Abstract excerpt
See Lerche (doi:10.1093/brain/awy073) for a scientific commentary on this article.Proline-rich transmembrane protein 2 (PRRT2) is the causative gene for a heterogeneous group of familial paroxysmal neurological disorders that include seizures with onset in the first year of life (benign familial infantile seizures), paroxysmal kinesigenic dyskinesia or a combination of both. Most of the PRRT2 mutations are...
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