Publications of the week – CNTNAP2, DEPDC5, and autism whole-genome sequencing

Issue 4/2015. Trying to keep up with the publications of the week in the field, we have selected three manuscripts this week, which challenge some of our well-established beliefs. It’s about an autism gene losing its statistical support, a familial epilepsy gene rediscovered in focal cortical dysplasia, and the surprises of whole-genome sequencing in familial autism. Continue reading

STRADA mutations, mTOR activation and personalized medicine using rapamycin

Rapamycin. The mTOR pathway, known through its role in Tuberous Sclerosis Complex (TSC), becomes increasingly important in epilepsy. A wide range of epilepsies caused by brain malformations are due to mutations in genes involved in this pathway, and several neurodevelopmental disorders associated with macrocephaly, intellectual disability and epilepsy are known, where components of this pathway are altered due to germline mutations. For one of these disorders named PMSE (polyhydramnios, megalencephaly and symptomatic epilepsy), a recent paper in Science Translational Medicine reports the effects of treatment with rapamycin, an mTOR inhibitor. The results demonstrate that personalized medicine might in part be promising, asexisting drugs can be used in rare genetic diseases. Continue reading

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