Connecting the paralogs: contribution of EFHC1 and EFHC2 in juvenile myoclonic epilepsy

Abstract

Epilepsy is relatively common neurological disorder affecting 1-3% of population during their lifetime (Delgado-Escueta AV et al 2013; Pandolfo M 2013; Thomas HR and Berkovic SF 2014). Epilepsy is characterized by usually unprovoked and recurrent seizures, which are consequence of a burst of activity from groups of neurons. Epileptic seizures are usually intermittent, self-limiting and occur with or without loss of consciousness. Seizures are generalized when synchronized firing of neurons involves the whole brain or focal wherein seizure activity is limited to a specific brain region. While final outcome of seizure results from many complex and interacting biological factors, abnormal cellular excitability and neuronal network defects are considered to be major physiological elements underlying seizure activity of the brain.