Positional cloning of the pathogenic gene for familial myoclonus epilepsy (BAFME) mapped to the 8q23 region

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Benign adult familial myoclonus epilepsy (BAFME) was mapped to 8q23.3-q24.1. We have performed DNA sequencing and detailed analysis of the 8q22-qter including the BAFME region. As a result, we found at least 46 protein coding genes including FOG2, OXR1, STARS, ANGPT1, MGC35555, INT6, KIAA0103, FLJ30668, TRHR, CML66, DC6, PKHDK1, EBAG9, FLJ20366, KCNV1, CSMD3, TRPS1, EIF3SC, MGC14595, RAD21, AARD, SLC30A8, THRAP6, EXT1, SAMD12, TNFRSF11B, COLEC10, MAL2, NOV, ENPP2, TAF2, MGC5528, DEPDC6, COL14A1, MRPL13, MTBP, SNTB1, HAS2, ZHX2, DER1, MGC21654, BJ-TSA-9, FLJ14825, ZHX1, ATAD2, and FBXO32. Then we preformed mutation analysis of coding exons, exons of 5'UTR regions, and promoter regions within 300-500bp upstream of the transcription starting points by PCR amplification and direct sequencing. We also performed mutation analysis of 5'non-coding RNA genes (AK025035, AK025288, BC034804, Keio_929, Keio_930). Furthermore, we preformed quantitative PCR analysis against each exon of all the genes within the BAFME region to detect some exonic deletions or insertions. In this way, we completed every items of mutation analysis listed in the initial plan of this study, but we have not yet identified the causative mutations. Therefore, we suspect that the mutations must be located within an intronic region, spacer between genes, or as yet an un-identified gene within the region.