List of diseases covered by
Paroxysmal Dyskinesia NGS panel
Gene | Condition |
ADCY5 | Dyskinesia, familial, with facial myokymia |
KCNMA1 | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 |
PNKD | Paroxysmal nonkinesigenic dyskinesia 1 |
PRRT2 | Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 |
SLC2A1 | Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 2, childhood onset; Stomatin-deficient cryohydrocytosis with neurologic defects; Epilepsy, idiopathic generalized, susceptibility to, 12 |