Article
Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.
Human mutation - 1 Jul 2017
Raju Praveen K, Satishchandra Parthasarathy, Nayak Sourav, Iyer Vishwanathan, Sinha Sanjib, Anand Anuranjan
Abstract excerpt
Juvenile myoclonic epilepsy (JME) is a common form of epilepsy with a substantial genetic basis to its etiology. While earlier studies have identified EFHC1 as a causative gene for JME, subsequent studies have suggested that ethnicity may play a role in determining expression of the JME phenotype among individuals carrying EFHC1 mutations. Here, we report on our studies on EFHC1 in JME patients from India. We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.