The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Novel mutations in the Na+, K+‐ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions
Abstract
Familial hemiplegic migraine (FHM) is a rare, severe, autosomal dominant subtype of migraine with aura. Up to 75% of FHM families have a mutation in the P/Q‐type calcium channel Ca v 2.1 subunit CACNA1A gene on chromosome 19p13. Some CACNA1A mutations also may cause epilepsy. Here, we describe novel missense mutations in the ATP1A2 Na+,K+‐ATPase pump gene on chromosome 1q23 in two families with FHM. The M731T mutation was found in a family with pure FHM. The R689Q mutation was identified in a family in which FHM and benign familial infantile convulsions partially cosegregate. In this family, all available affected family members with FHM, benign familial infantile convulsions, or both, carry the ATP1A2 mutation. Like FHM linked to 19p13, FHM linked to 1q23 also involves dysfunction of ion transportation and epilepsy is part of its phenotypic spectrum.
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Cited by
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
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Self-citationDe novo mutations in ATP1A3 cause alternating hemiplegia of childhood
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Recent advances in luminescent heavy metal complexes for sensing
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Molecular genetics of migraine
de Vries, B., Frants, R. R., Ferrari, M. D., & van den Maagdenberg, A. M. J. M. (2009) · Human Genetics · doi:10.1007/s00439-009-0684-z · Cited by 288
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Metadata
- Authors
- Vanmolkot, K. R. J., Kors, E. E., Hottenga, J., Terwindt, G. M., Haan, J., Hoefnagels, W. A. J., Black, D. F., Sandkuijl, L. A., Frants, R. R., Ferrari, M. D., & Van Den Maagdenberg, A. M. J. M.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2003-08-28
- Volume
- 54
- Issue
- 3
- Pages
- 360-366
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2054806069
- Cited by
- 360
- References
- 25
- FWCI
- 19.47
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Novel mutations in the Na+, K+‐ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. https://app.cochat.ai/papers/10.1002/ana.10674
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- Vanmolkot, K. R. J., Kors, E. E., Hottenga, J., Terwindt, G. M., Haan, J., Hoefnagels, W. A. J., Black, D. F., Sandkuijl, L. A., Frants, R. R., Ferrari, M. D., & Van Den Maagdenberg, A. M. J. M. (2003). Novel mutations in the Na+, K+‐ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Annals of Neurology. https://doi.org/10.1002/ana.10674
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