Article
A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients.
Epilepsia - 1 Feb 2017
Assenza Giovanni, Benvenga Antonella, Gennaro Elena, Tombini Mario, Campana Chiara, Assenza Federica, Di Pino Giovanni, Di Lazzaro Vincenzo
Abstract excerpt
Unverricht-Lundborg disease or progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disease caused by mutation of the cystatin B gene (CSTB), located on chromosome 21q22.3. The most common mutation is an expansion of unstable dodecamer repetition (CCCCGCCCCGCG), whereas other types of mutations are rare. Among these, heterozygous compound mutations are described to induce a more severe phenotype...
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