Progressive myoclonus epilepsy is a heterogeneous group of disorders characterized by
myoclonic and tonic-clonic seizures, ataxia and cognitive decline. We here present two …

Epilepsy affects approximately 1% of the world's population. Genetic factors and acquired
etiologies, as well as a range of environmental triggers, together contribute to …

Mutations in the potassium channel-related gene KCTD7 were described so far in a single
family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset …

Progressive myoclonic epilepsy (PME) is a heterogeneous group of epilepsies
characterized by myoclonus, seizures and progressive neurological symptoms. The index …

Objective Several small case series identified KCTD7 mutations in patients with a rare
autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and …

Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically
and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and …

Mutations in the potassium channel tetramerization domain-containing 7 (KCTD7) gene are
associated with a severe neurodegenerative phenotype characterized by childhood onset of …

Objective We investigated a large consanguineous Moroccan family with progressive
myoclonic epilepsy (PME) consistent with autosomal recessive inheritance, to describe the …

The potassium channel tetramerization domain-containing protein 7 (KCTD7) was named
after the structural homology of its predicted N-terminal broad complex, tramtrack and bric à …

KCTD10 belongs to the KCTD (potassiumchannel tetramerization domain) family, many
members of which are associated with neuropsychiatric disorders. However, the biological …