Table 8.

Familial Hemiplegic Migraine: Notable Pathogenic Variants by Gene

Gene 1Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
ATP1A2 NM_000702​.4
NP_000693​.1
c.901G>Ap.Gly301ArgSevere phenotype reported [Spadaro et al 2004, Santoro et al 2011]
c.2152G>Ap.Asp718AsnSevere phenotype reported [Jurkat-Rott et al 2004]
c.2936C>Tp.Pro979Leu
c.2291T>Cp.Leu764Pro De Fusco et al [2003]
c.2659T>Cp.Trp887Arg
CACNA1A NM_001127221​.2
NP_001120693​.1
X99897 2
c.575G>Ap.Arg192GlnHemiplegic attacks [Carrera et al 1999]
c.653C>Tp.Ser218LeuKors et al [2001], Stam et al [2009]
c.1748G>Ap.Arg583GlnBattistini et al [1999], Ducros et al [2001]
c.1997C>Tp.Thr666MetMost common pathogenic variant w/no evidence for founder effect [Ducros et al 1999]
c.2141T>Cp.Val714AlaHemiplegic attacks & unconsciousness [Terwindt et al 1998]
c.2145C>Gp.Asp715GluLowest frequency (64%) of attacks of hemiplegic migraine [Ducros et al 2001]
c.4366G>T
(c.4369G>T) 2
p.Val1456Leu
(p.Val1457Leu) 2
Hemiplegic attacks [Carrera et al 1999]
c.5428A>C
(c.5431A>C) 2
p.Ile1810Leu
(p.Ile1811Leu) 2
Hemiplegic attacks + ataxia [Ducros et al 1999]
SCN1A NM_001165963​.4
NP_001159435​.1
c.787C>Gp.Leu263Val Jansen et al [2020]

Variants listed in the table have been provided by the author. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Genes from Table 1 in alphabetic order

2.

Variant designations are given for an alternate reference sequence. X99897 is an alternate cDNA commonly used in the literature. Compared to NM_001127221.2, it has an extra three nucleotides (AAG) at nucleotide 3623_3625, resulting in an additional Glu residue.

From: Familial Hemiplegic Migraine

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