1.
Epilepsy Res
; 99(1-2): 187-90, 2012 Mar.
Article
En
| MEDLINE
| ID: mdl-22154554
Unverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence. This is one of the few cases of homozygosity for a non-classic mutation and adds to mutational heterogeneity of CSTB.
Cystatin B/genetics , Homozygote , Mutation , Unverricht-Lundborg Syndrome/genetics , Adult , Humans , Male , Protein Isoforms/genetics , Unverricht-Lundborg Syndrome/diagnosis