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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 RG, Rochefort DL, Chrétien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, Patry G, Farrell K, Söderfeldt B, Federico A, Hale BR, Cossio OH, Sørensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA. Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet. 1997 Mar; 15(3):298-302.

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