Table 8. [Familial Hemiplegic Migraine: Notable Pathogenic Variants by Gene]. - GeneReviews®

Gene ¹	Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
ATP1A2	NM_000702.4 NP_000693.1	c.901G>A	p.Gly301Arg	Severe phenotype reported [Spadaro et al 2004, Santoro et al 2011]
c.2152G>A	p.Asp718Asn	Severe phenotype reported [Jurkat-Rott et al 2004]
c.2936C>T	p.Pro979Leu
c.2291T>C	p.Leu764Pro	De Fusco et al [2003]
c.2659T>C	p.Trp887Arg
CACNA1A	NM_001127221.2 NP_001120693.1 X99897 ²	c.575G>A	p.Arg192Gln	Hemiplegic attacks [Carrera et al 1999]
c.653C>T	p.Ser218Leu	Kors et al [2001], Stam et al [2009]
c.1748G>A	p.Arg583Gln	Battistini et al [1999], Ducros et al [2001]
c.1997C>T	p.Thr666Met	Most common pathogenic variant w/no evidence for founder effect [Ducros et al 1999]
c.2141T>C	p.Val714Ala	Hemiplegic attacks & unconsciousness [Terwindt et al 1998]
c.2145C>G	p.Asp715Glu	Lowest 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]
PRRT2	NM_145239.3 NP_660282.2	c.649dupC	p.Arg217Glufs	Hemiplegic migraine [Dale et al 2012]
SCN1A	NM_001165963.4 NP_001159435.1	c.787C>G	p.Leu263Val	Jansen et al [2020]

Gene ¹

Reference Sequences

DNA Nucleotide Change

Predicted Protein Change

Comment [Reference]

ATP1A2

NM_000702.4
NP_000693.1

c.901G>A

p.Gly301Arg

Severe phenotype reported [Spadaro et al 2004, Santoro et al 2011]

c.2152G>A

p.Asp718Asn

Severe phenotype reported [Jurkat-Rott et al 2004]

c.2936C>T

p.Pro979Leu

c.2291T>C

p.Leu764Pro

De Fusco et al [2003]

c.2659T>C

p.Trp887Arg

CACNA1A

NM_001127221.2
NP_001120693.1
X99897 ²

c.575G>A

p.Arg192Gln

Hemiplegic attacks [Carrera et al 1999]

c.653C>T

p.Ser218Leu

Kors et al [2001], Stam et al [2009]

c.1748G>A

p.Arg583Gln

Battistini et al [1999], Ducros et al [2001]

c.1997C>T

p.Thr666Met

Most common pathogenic variant w/no evidence for founder effect [Ducros et al 1999]

c.2141T>C

p.Val714Ala

Hemiplegic attacks & unconsciousness [Terwindt et al 1998]

c.2145C>G

p.Asp715Glu

Lowest 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]

PRRT2

NM_145239.3
NP_660282.2

c.649dupC

p.Arg217Glufs

Hemiplegic migraine [Dale et al 2012]

SCN1A

NM_001165963.4
NP_001159435.1

c.787C>G

p.Leu263Val

Jansen et al [2020]

From: Familial Hemiplegic Migraine

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