Table 2.

Disease-causing mutations identified in the CACNA1A and ATP1A2 genes in hemiplegic migraine patients

		Mutation position
Patient	Gene	Protein	cDNA	Exon	Protein domain	Detection method	Phenotype	Previously reported in other patients	Reference
391A	CACNA1A	p.Ser218Leu	c.653C>T	5	Cytoplasmic, IS4-5	−TaqI	SHM and generalized seizures	HM	Kors et al. (2001, #164)
A03_44	CACNA1A	p.Thr501Met	c.1502C>T	11	Transmembrane, S1 DII	+FatI	FHM, progressive ataxia	EA2	Mantuano et al. (2010, #165)
A00_100	CACNA1A	p.Arg583Gln	c.1748G>A	13	Transmembrane, S4 DII	−BanII	FHM, EA2, progressive ataxia	HM	Ducros et al. (2001, #166)
322B	CACNA1A	p.Thr666Met	c.1997C>T	17	Transmembrane, hairpin loop DII	+BccI	FHM, MA	HM	Ophoff et al. (1996, #119)
387A	ATP1A2	p.Glu825Lys	c.2473G>A	18	Cytoplasmic loop, L6/7	−PvuII	FHM	No	–
I310	ATP1A2	p.Ala606Thr	c.1816G>A	13	Cytoplasmic loop, M4/5	+HhaI	FHM, partial epileptic seizures	HM	Riant et al. (2005, #922)

HM, hemiplegic migraine; FHM, familiar hemiplegic migraine; SHM, sporadic hemiplegic migraine; MA, migraine with aura; EA2, episodic ataxia type 2.