Lafrenière,
Rochefort,
Chrétien,
Rommens,
Cochius,
Kälviäinen,
Nousiainen,
Patry,
Farrell,
Söderfeldt,
Federico,
Hale,
Cossio,
Sørensen,
Pouliot,
Kmiec,
Uldall,
Janszky,
Pranzatelli,
Andermann,
Andermann,
Rouleau,
- Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Lafrenière, R.G., Rochefort, D.L., Chrétien, N., Rommens, J.M., Cochius, J.I., Kälviäinen, R., Nousiainen, U., Patry, G., Farrell, K., Söderfeldt, B., Federico, A., Hale, B.R., Cossio, O.H., Sørensen, T., Pouliot, M.A., Kmiec, T., Uldall, P., Janszky, J., Pranzatelli, M.R., Andermann, F., Andermann, E., Rouleau, G.A. Nat. Genet. (1997)