FAME. Some familial epilepsy syndromes are notoriously resistant to gene discovery. Familial Adult Myoclonus Epilepsy (FAME), a rare but distinct familial epilepsy, has been one of the familial epilepsy syndromes that has been around for more than a decade. Despite the power of modern massive parallel sequencing technologies, this syndrome has been hard to tackle. In a recent publication, we take a small step in narrowing down the region for the FAME gene. Let’s use this opportunity for a reality check of the somewhat disappointing state of gene discovery in familial epilepsies in 2016 and what we can do about this. Continue reading
Tag Archives: familial epilepsies
Familial epilepsies revisited – the big picture
Family genetics. The analysis of epilepsy families helped jumpstart the field of epilepsy genetics by identifying SCN1A and several other epilepsy genes in the late 1990s. However, more recently, gene discovery in familial epilepsies has been overshadowed by the explosion of gene identifications in sporadic epileptic encephalopathies. A recent publication in Neurology now reviews the results of a decade-long endeavor to characterize familial epilepsies in Israel and Palestine. Find out why we are far from understanding the majority of familial epilepsies, why GGE/IGE families are the main problem, and what the “familial four” are.
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
