FAME8_RAI1
- Gene
- RAI1
- Disease
- FAME8
- Inheritance
- AD
- Classification
- Limited
- Total Score
- 6
- Publications Reviewed
- 3
- Publication Span
- 0.5 years
- Last Updated
- 08/14/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Description
FAME8 is an autosomal dominant benign adult familial myoclonic epilepsy caused by an intronic RAI1 TTTTA repeat expansion followed by TTTCA repeat insertion. The locus was reported in a large Malian family, where the expansion co-segregated with disease in affected relatives and TTTCA insertions were absent from Malian controls. RAI1 blood RNA studies did not show altered expression, suggesting RAI1 haploinsufficiency is unlikely; the disease mechanism remains uncertain and likely repeat-dependent.
Genetic evidence
Total: 3
| Singular Evidence | Probands | PMID:37994247 | 1.5 | One large Malian BAFME8 family: 10 affected and 17 unaffected relatives were studied; RAI1 intron 4 TTTTA expansion with TTTCA insertion was identified by long-read sequencing/RP-PCR, co-segregated with disease, and TTTCA insertions were absent in 200 Malian controls. |
| Collective Evidence | Computational | PMID:38871700 | 1.5 |
2 rows
Experimental evidence
Total: 3
| Function | Biochemical function | PMID:37994247 PMID:38876750 | 0.5 | |
| Function | Protein interaction | PMID:37994247 | 0.5 | |
| Function | Regulatory impact | PMID:37994247 | 0.5 | |
| Functional Alteration | Patient cells | PMID:37994247 | 1 | |
| Functional Alteration | Non-patient cells | PMID:37994247 | 0.5 |
5 rows
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.