CNTN2 mutations and autosomal recessive cortical myoclonic tremor with epilepsy

Epilepsy & Tremor. The familial occurrence of epileptic seizures and chronic, non-progressive myoclonic tremor represents a peculiar genetic epilepsy syndrome for which the gene still remains elusive. Several families have been reported with autosomal dominant inheritance, and linkage to chromosomes 2, 5 and 8 have been reported. Now, the story regarding this familial syndrome gets even more enigmatic. In a recent paper in Brain, Stogmann and collaborators identify CNTN2 as the causative gene for a recessive form of cortical myoclonic tremor with epilepsy. Continue reading