Pinto, EugeniaFreitas, JoelDuarte, Ana JoanaRibeiro, IsauraLima, JLChaves, JoaoAmaral, Olga2012-02-132012-02-132011-12Epilepsy Res. 2011 Dec 9. [Epub ahead of print]0920-1211ESSN: 1872-6844doi: 10.1016/j.eplepsyres.2011.11.004http://hdl.handle.net/10400.18/538AJD and DR are both recipients of FCT grants.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.engDoenças GenéticasEpilepsiaEpilepsyCistatinajournal article