Role of nicotinic acetylcholine receptor gene (839 C>T) and voltage gated sodium channel gene (563 A>T) mutations in juvenile myoclonic epilepsy (JME)

2^nd International Conference on Epilepsy & Treatment

October 20-21, 2016 Rome, Italy

Musadiq Ahmad Bhat

Maulana Azad Medical College & Associated Hospitals, India

Posters & Accepted Abstracts: J Neurol Disord

Abstract :

Juvenile myoclonic epilepsy (JME) emerges in mid-to-late childhood. The prevalence of JME in large cohorts has been estimated to be 5% to 10% of all epilepsies and around 18% of idiopathic generalized epilepsies but may be lower in some settings. Various mutations of nicotinic acetylcholine receptor gene and voltage gated sodium channel gene have been found to play a role in various types of epilepsy. In the present study, we characterized the role of 839 C>T and 563 A>T mutations of nicotinic acetylcholine receptor gene and voltage gated sodium channel gene respectively in juvenile myoclonic epilepsy (JME). The aim of the present study was to examine the role of nicotinic acetylcholine receptor gene and voltage gated sodium channel gene mutations in juvenile myoclonic epilepsy in Indian population. 3 ml of peripheral blood was collected in EDTA vials after obtaining informed consent from 50 JME patients. DNA was extracted using GeneAid DNA extraction kit and mutations of nicotinic acetylcholine receptor gene (839 C>T) and voltage gated sodium channel gene (563 A>T) in juvenile myoclonic epilepsy patients was studied by AS-PCR using primers specific for 839 C>T and 563 A>T mutations. The demographic and clinico-pathological features included the age, gender, onset of seizure, frequency of seizure, duration of seizure, postictal period, drug response, etc. For 839 C>T mutation of acetylcholine receptor gene, a statistical significant association was observed amongst the patients with clinico-pathological features like postictal period and drug response with p value of 0.0196 and 0.0377, respectively. For 563 A>T mutation of voltage gated sodium channel gene, there was a significant association of this mutation with JME (p=0.0001). However, there was no significant association of this mutation observed with any of the clinico-pathological features like onset of seizures, frequency of seizures, duration of seizures, etc. This can be concluded from the study that 839 C>T mutation of nicotinic acetylcholine receptor gene and 563 A>T mutation of voltage gated sodium channel gene may play a significant role in juvenile myoclonic epilepsy.

Biography :

Email: bhat.musadiq@gmail.com