Article
Seizures, ataxia, and neuronal loss in cystatin B heterozygous mice.
Epilepsia - 1 Apr 2007
Kaasik Allen, Kuum Malle, Aonurm Anu, Kalda Anti, Vaarmann Annika, Zharkovsky Alexander
Abstract excerpt
Unverricht-Lundborg disease (EPM1) has been considered to be an autosomal-recessive disease related with loss of function mutations in the gene encoding cystatin B. Although heterozygous carriers are generally asymptomatic, earlier studies in Finnish EPM1 families have reported minor symptoms together with slight changes in the EEG recordings also in near relatives of patients. Here we tested the hypothesis that...
Topics
- Animals
- Ataxia
- Behavior, Animal
- Brain
- Cell Count
- Cell Death
- Cerebellum
- Cerebral Cortex
- Cystatin B
- Cystatins
- Disease Models, Animal
- Female
- Finland
- Handling, Psychological
- Heterozygote
- Male
- Mice
- Mice, Mutant Strains