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