Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908225
rs121908225
CACNA1A
0.030 GeneticVariation BEFREE Patient We report a 16-year clinical and neuroradiological follow-up of a patient carrying a de novo p.Ser218Leu CACNA1A HM mutation who had nine severe HM attacks associated with seizures and decreased consciousness between the ages of 3 and 12 years. 28750589

2018
dbSNP: rs121908225
rs121908225
CACNA1A
0.030 GeneticVariation BEFREE Here we report a sporadic case of FHM1 linked to S218L CACNA1A gene mutation with the triad of prolonged hemiplegic migraine, cerebellar symptoms, and epileptic seizures. 20071244

2010
dbSNP: rs121908225
rs121908225
CACNA1A
0.030 GeneticVariation BEFREE As the S218L mutation enhances the propensity for cortical spreading depression (CSD), we postulate a role for CSD not only in hemiplegic migraine but also in early seizures and cerebral oedema after trivial head trauma. 19520699

2009
dbSNP: rs1345986424
rs1345986424
SLC2A1
0.010 GeneticVariation BEFREE A pathogenic de novo SLC2A1 mutation (p.Gly18Arg) was found in the atypical patient with overlapping symptoms of AHC and hemiplegic migraine. 24824604

2015
dbSNP: rs587777771
rs587777771
ATP1A3
0.010 GeneticVariation BEFREE The ATP1A3 c.2452G>A mutation was identified in the affected members of the family, while one of the mutation carriers exhibited both CAPOS and hemiplegic migraine. 26453127

2015
dbSNP: rs782461379
rs782461379
ATP1A3
0.010 GeneticVariation BEFREE A pathogenic de novo SLC2A1 mutation (p.Gly18Arg) was found in the atypical patient with overlapping symptoms of AHC and hemiplegic migraine. 24824604

2015
dbSNP: rs782503624
rs782503624
ATP1A3
0.010 GeneticVariation BEFREE The ATP1A3 c.2452G>A mutation was identified in the affected members of the family, while one of the mutation carriers exhibited both CAPOS and hemiplegic migraine. 26453127

2015
dbSNP: rs1253956567
rs1253956567
SCN1A ; SCN1A-AS1
0.010 GeneticVariation BEFREE Here we report on a three-generation family with five patients having a novel ATP1A2 mutation on exon 19, causing guanine-to-adenine substitution (c.2620G>A, p.Gly874Ser) that co-segregated in the five living relatives with migraine, four of whom had hemiplegic migraine. 23918834

2014
dbSNP: rs763054302
rs763054302
CACNA1A
0.010 GeneticVariation BEFREE Here we report on a three-generation family with five patients having a novel ATP1A2 mutation on exon 19, causing guanine-to-adenine substitution (c.2620G>A, p.Gly874Ser) that co-segregated in the five living relatives with migraine, four of whom had hemiplegic migraine. 23918834

2014
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
0.010 GeneticVariation BEFREE Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine. 23398611

2013
dbSNP: rs746795369
rs746795369
ATP1A2
0.010 GeneticVariation BEFREE Mutational analysis revealed a heterozygous nucleotide substitution c.3019C>T resulting in the missense substitution p.Arg1007Trp (p.R1007W) in seven subjects: Three individuals had hemiplegic migraine, two exhibited a clinical overlap between migraine and epilepsy, one had migraine and one was unaffected. 23838748

2013
dbSNP: rs121908217
rs121908217
CACNA1A
0.010 GeneticVariation BEFREE We report the case of a patient carrying the p.Arg583Gln mutation affected by hemiplegic migraine and late onset ataxia and we performed a literature review about the clinical features of p.Arg583Gln. 22527033

2012
dbSNP: rs1057520918
rs1057520918
CACNA1A
0.010 GeneticVariation BEFREE R1347Q is the third most frequent mutation in hemiplegic migraine patients and should therefore be screened with priority for confirmation of clinical diagnosis. 18400034

2008
dbSNP: rs1164174661
rs1164174661
CACNA1A
0.010 GeneticVariation BEFREE Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. 18644040

2008
dbSNP: rs121908230
rs121908230
CACNA1A
0.010 GeneticVariation BEFREE R1347Q is the third most frequent mutation in hemiplegic migraine patients and should therefore be screened with priority for confirmation of clinical diagnosis. 18400034

2008
dbSNP: rs121908212
rs121908212
CACNA1A
0.010 GeneticVariation BEFREE A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia. 15210532

2004