| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.020 | GeneticVariation | BEFREE | Methods Eight patients from a multigenerational FHM type 1 family harbouring a T666M mutation in the CACNA1A gene were referred to our ataxia outpatient clinic. | 28856914 | 2018 |
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0.020 | GeneticVariation | BEFREE | A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia. | 15210532 | 2004 |
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0.010 | GeneticVariation | BEFREE | Exome sequencing in five individuals with severe early onset ataxia identified one novel variant (p.R1673P), in a girl with global developmental delay and progressive cerebellar atrophy, and a recurrent, de novo p.R1664Q variant, in four individuals with global developmental delay, hypotonia, and ophthalmologic abnormalities. | 28742085 | 2017 |
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0.010 | GeneticVariation | BEFREE | Although p.Arg583Gln mutations are associated with a heterogeneous phenotype, carriers present cerebellar signs which consisted generally in ataxia and dysmetria, with intention tremor appearing mostly in advanced age, often progressive and permanent. | 22527033 | 2012 |
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0.010 | GeneticVariation | BEFREE | The CACNA1A S218L mutation is associated with familial hemiplegic migraine, ataxia and/or ESCEATHT. | 19520699 | 2009 |
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0.010 | GeneticVariation | BEFREE | A genotype-phenotype comparison of R1347Q mutation carriers revealed a wide clinical spectrum ranging from (trauma triggered) hemiplegic migraine with and without ataxia, loss of consciousness and epilepsy. | 18400034 | 2008 |
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0.010 | GeneticVariation | BEFREE | A genotype-phenotype comparison of R1347Q mutation carriers revealed a wide clinical spectrum ranging from (trauma triggered) hemiplegic migraine with and without ataxia, loss of consciousness and epilepsy. | 18400034 | 2008 |