List of diseases covered by
Familial Hemiplegic Migraine NGS panel
Gene | Condition |
ATP1A2 | Migraine, familial hemiplegic, 2; Alternating hemiplegia of childhood 1 |
ATP1A3 | Alternating hemiplegia of childhood 2; CAPOS syndrome; Dystonia-12 |
CACNA1A | Migraine, familial hemiplegic, 1; Epileptic encephalopathy, early infantile, 42; Episodic ataxia, type 2; Spinocerebellar ataxia 6 |
CSNK1D | Advanced sleep-phase syndrome, familial, 2 |
KCNK18 | Migraine, with or without aura, susceptibility to, 13 |
NOTCH3 | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1; Lateral meningocele syndrome; Myofibromatosis, infantile 2 |
PNKD | Paroxysmal nonkinesigenic dyskinesia 1 |
POLG | Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1 |
PRRT2 | Convulsions, familial infantile, with paroxysmal choreoathetosis; Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2 |
SCN1A | Migraine, familial hemiplegic, 3; Epilepsy, generalized, with febrile seizures plus, type 2; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) |
SLC1A3 | Episodic ataxia, type 6 |
SLC2A1 | Epilepsy, idiopathic generalized, susceptibility to, 12; Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 2, childhood onset; Stomatin-deficient cryohydrocytosis with neurologic defects |
SLC4A4 | Renal tubular acidosis, proximal, with ocular abnormalities |