Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
@article{Ophoff1996FamilialHM, title={Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4}, author={Roel A. Ophoff and Gisela M. Terwindt and Monique N. Vergouwe and Ronald van Eijk and Peter J. Oefner and Susan M. G. Hoffman and Jane E. Lamerdin and Harvey W. Mohrenweiser and Dennis E. Bulman and Maurizio Ferrari and Joost Haan and Dick Lindhout and G. J. B. Ommen and Marten H. Hofker and Michel D. Ferrari and Rune R. Frants}, journal={Cell}, year={1996}, volume={87}, pages={543-552} }
2,257 Citations
Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine
- Biology, PsychologyNeurology
- 1998
It is concluded that the I1811L mutation causes both FHM and cerebellar ataxia independent of the number of CAG repeats, supporting the hypothesis that FHM is part of the migraine spectrum.
Involvement of a Ca 2+ Channel Gene in Familial Hemiplegic Migraine and Migraine With and Without Aura
- Psychology, Medicine
- 1997
The association between the α1A calcium channel and familial hemiplegic migraine, and the increase of shared alleles in migraine‐affected sib‐pairs, have uncovered a new pathway for the pathophysiology of migraine.
Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene
- Biology, MedicineJournal of neurology, neurosurgery, and psychiatry
- 2002
The data suggest that mutations in the CACNA1A gene, encoding a P/Q-type calcium channel α1A subunit, are responsible for recurrent episodes of attacks of cerebellar ataxia accompanied by interictal nystagmus in FHM with progressive Cerebellar Ataxia (FHM/PCA).
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.
- Biology, MedicineArchives of neurology
- 2003
The disease-causing mutation in this family was identified, showing that a unique mutation in the CACNA1A gene causes several phenotypes, including those of SCA 6 and FHM, thus suggesting that SCA6 and F HM are not only allelic diseases but are the same disorder with a large phenotypic variability.
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.
- BiologyAmerican journal of human genetics
- 1999
Haplotyping with neighboring markers suggested that T666M arose through recurrent mutational events and could indicate that the PCA observed in 20% of HM families results from specific pathophysiologic mechanisms.
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.
- Biology
- 1999
A novel missense mutation, G5260A, in exon 32 in a family segregating for EA-2 is characterised, which represents the first point mutation not resulting in a proposed truncated protein.
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene
- BiologyJournal of the Neurological Sciences
- 2006
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM
- BiologyHuman Genetics
- 1999
A novel missense mutation, G5260A, in exon 32 in a family segregating for EA-2 is characterised, which represents the first point mutation not resulting in a proposed truncated protein.
Familial hemiplegic migraine type 1 mutations W1684R and V1696I alter G protein-mediated regulation of Ca(V)2.1 voltage-gated calcium channels.
- BiologyBiochimica et biophysica acta
- 2012
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