Disease

Paroxysmal Kinesigenic Dyskinesia

About the Disease
Episodic Kinesigenic Dyskinesia 1, also known as paroxysmal kinesigenic choreoathetosis, is related to reflex epilepsy and paroxysmal nonkinesigenic dyskinesia 1, and has symptoms including dystonia and dystonia, paroxysmal. An important gene associated with Episodic Kinesigenic Dyskinesia 1 is PRRT2 (Proline Rich Transmembrane Protein 2), and among its related pathways/superpathways is 16p11.2 proximal deletion syndrome. Affiliated tissues include brain, globus pallidus and caudate nucleus, and related phenotypes are chorea and dyskinesia

Common Targets
ECHS1 | GLRA1 | PDGFB | GBA1 | AP4B1 | PRRT2 | FAT2 | NBEA | PDE2A | KCNA1 | TMEM151A | FOXG1

疾病靶点研报
Paroxysmal Kinesigenic Dyskinesia

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