Ontology highlight
ABSTRACT:
SUBMITTER: Gorski K
PROVIDER: S-EPMC7691638 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Gorski Katarin K Spoljaric Albert A Nyman Tuula A TA Kaila Kai K Battersby Brendan J BJ Lehesjoki Anna-Elina AE
Frontiers in molecular neuroscience 20201113
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is a neurodegenerative disorder caused by loss-of-function mutations in the cystatin B (<i>CSTB</i>) gene. Progression of the clinical symptoms in EPM1 patients, including stimulus-sensitive myoclonus, tonic-clonic seizures, and ataxia, are well described. However, the cellular dysfunction during the presymptomatic phase that precedes the disease onset is not understood. CSTB deficiency leads to alterations in GABAergic signaling, ...[more]