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- W3088004803 abstract "Benign adult familial myoclonic epilepsy type 1 (BAFME1) in several Japanese and Chinese families has recently been found to be caused by pentanucleotide repeat expansions in SAMD12. We identified a Thai family with six members affected with BAFME. Microsatellite studies suggested a linkage to the BAFME1 region on chromosome 8q24. Subsequently, long-read whole-genome sequencing showed the (TTTTA)446(TTTCA)149 in intron 4 of SAMD12 in an affected member. Repeat-primed PCR and long-range PCR revealed that the pentanucleotide repeat expansions segregated with the disease status. Our Thai family is the first non-Japanese and non-Chinese family with BAFME1. SNP array showed that the aberrant repeats had the same haplotype as those previously determined in Japanese and Chinese patients suggesting a common ancestry. The variant is estimated to arise ~12,000 years ago." @default.
- W3088004803 created "2020-10-01" @default.
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- W3088004803 date "2020-09-24" @default.
- W3088004803 modified "2023-10-16" @default.
- W3088004803 title "Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1" @default.
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- W3088004803 doi "https://doi.org/10.1038/s41431-020-00729-1" @default.
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