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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a genetically heterogeneous disorder. Some patients exhibit mutations in the leucine-rich glioma inactivated (LGI1) gene. In an ADPEAF family, a novel mutation in the Lgi1 signal peptide is predicted to interfere with the protein cell sorting, resulting in altered processing. This finding suggests a loss-of-function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out.[1]

References

  1. Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism. Pizzuti, A., Flex, E., Di Bonaventura, C., Dottorini, T., Egeo, G., Manfredi, M., Dallapiccola, B., Giallonardo, A.T. Ann. Neurol. (2003) [Pubmed]
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