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Hypothesized to cause familial hemiplagic migraine type 2 in a dominant manner, which causes migraine with associated motor weakness as well as aura. This variant was reported seen in only one family; not enough evidence has been reported to establish a statistically significant association with the disease.
Polyphen 2 predicts damaging effect, other variants in this gene implicated in this disease
Seen in one family, genotype segregating with phenotype in four children tested (includes proband; estimated LOD: 0.9)
See Tonelli A et al. 2007 (17877748).
hypothesized effect is high penetrance
Moderate clinical importance, Uncertain pathogenic
(The "moderate clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Tonelli A, Gallanti A, Bersano A, Cardin V, Ballabio E, Airoldi G, Redaelli F,
Candelise L, Bresolin N, Bassi MT. Amino acid changes in the amino terminus of
the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and
sporadic hemiplegic migraine. Clin Genet. 2007 Dec;72(6):517-23. Epub 2007 Sep
18. PubMed PMID: 17877748.