Abstract

ASESSMENT OF SCN1A, SCN2A, EPM2A GENE MUTATUION IN DRAVET SYNDROME EPILEPSY SEIZURE DISORDER, IN HUMAN, TABRIZ, IRAN

Shahin Asadi*, Hamideh Mohammadzadeh and Mahsa Jamali

Abstract

In this study we have analyzed 100 people. 40 patients and 60 control group had sleep disturbances. The genes SCN1A, SCN2A, EPM2A analyzed in terms of genetic mutations made. In this study, people who have genetic mutations were targeted, with dravet syndrome nervous disorders, seizure or epilepsy. In fact, of all people with seizure or epilepsy, 40 people had a genetic mutation in the genes SCN1A, SCN2A, EPM2A. Any genetic mutations in the target genes control group, did not show.

Keywords: Genetic study, Seizure or Epilepsy,Mutation SCN1A,SCN2A, EPM2A,Real Time PCR, Neuro Genetics, Epi Genetics, dravet syndrome.