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 Dominique Ferrari and Rune R. Frants},
  journal={Cell},
  year={1996},
  volume={87},
  pages={543-552}
}

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References

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The results indicate that the DHP-receptor alpha 1-subunit mutation causes HypoPP, and an altered excitation-contraction coupling may explain the occurrence of muscle weakness.
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