Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2

@inproceedings{Limviphuvadh2010SimilarityOM,
  title={Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2},
  author={Vachiranee Limviphuvadh and Ling Ling Chua and Rabi 'Atul' Adawiyah Bte Rahim and Frank Eisenhaber and Sebastian Maurer-Stroh and Sharmila Adhikari},
  booktitle={BMC Biochemistry},
  year={2010}
}
The LGI2 (leucine-rich, glioma inactivated 2) gene, a prime candidate for partial epilepsy with pericentral spikes, belongs to a family encoding secreted, beta-propeller domain proteins with EPTP/EAR epilepsy-associated repeats. In another family member, LGI1 (leucine-rich, glioma inactivated 1) mutations are responsible for autosomal dominant lateral temporal epilepsy (ADLTE). Because a few LGI1 disease mutations described in the literature cause secretion failure, we experimentally analyzed… CONTINUE READING

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