Abstract

Background: Juvenile myoclonic epilepsies (JME) have a complex genetic disease and involved different susceptible idiopathic generalized epilepsy (IGE) genes in JME patients. JME inheritance is autosomal dominant in all BRD2 mutations show heterozygosity in affected individuals. The JME is estimated around 3 in 10,000 with peak age at 14.5 to 15.5 years that affect both genders. Non synonymous single nucleotide polymorphisms (nsSNPs) are coding variants that changes amino acid in their corresponding proteins, because nsSNPs can affect protein function. The discoveries of these genes, related to JME will provide the clinical practice and improve diagnosis and treatment of epilepsy. Objectives: 1. To support innovative research, of the highest scientific merit, that has the potential for patient benefit. 2. To identify the mutations in BRD2 gene of JME patients Methods: The case-control study design will performed molecular a molecular screening of BRD2 gene exonic sequences for the detection of mutations by genomic PCR amplification and direct sequencing through ABI PRISM® 377 DNA Analyzer. Result: Three missesnse mutations were observed in exon 7 of BRD2 gene in unrelated JME cases from south Indian population. Conclusion: BRD2 gene polymorphism could significantly promising therapeutic targets in the prevention of JME. Loss of protein stability leads to loss of enzymatic activity of hyper neuronal excitability and possibly to the accumulation of the protein in cells. Keywords: JME (Juvenile Myoclnic Epilepsy); BRD2 Gene (Bromodomain Containing 2 Protein Gene); missense mutation (A missense mutation may lead to the synthesis of a protein that is nonfunctional), nsSNP (non-synonymous Single Nucleotide Polymorphism)

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