The evolving spectrum of PRRT2-associated paroxysmal diseases.

Abstract excerpt

Next-generation sequencing has identified mutations in the PRRT2 (proline-rich transmembrane protein 2) gene as the leading cause for a wide and yet evolving spectrum of paroxysmal diseases. PRRT2 mutations are found in the majority of patients with benign familial infantile epilepsy, infantile convulsions and choreoathetosis and paroxysmal kinesigenic dyskinesia, confirming a common disease spectrum that had...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Central Nervous System Diseases
• Share to Epilepsy research and treatment