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Journal of Biomedical Research | ISSN: 0976-1683 | Volume 30
March 14-15, 2019 | London, UK
T issue Engineer ing, Stem Cel ls and Regenerat ive Medicine
Cel l and Gene Therapy
World Congress on
International Conference on
&
Joint Event
Role of aminoacyl-tRNA synthetases (AARS) gene in epileptic encephalopathy, early infantile, 29 in
Pakistani population
Sumaira Kanwal
1
, Shazia Perveen
2
and
Hina Mehreen
2
1
COMSATS University Islamabad, Pakistan
2
The Women University Multan Matital Campus, Multan Pakistan
E
pilepsy is one of the most common neurological disorders
and is more common in developing countries as compared
to developed one. Epilepsy has a various type of phenotype
depends upon the pathways involved in the signaling process.
Epilepsy is a group of neurological disorders characterized by
recurrent epileptic seizures. Genetics is believed to be involved
in themajority of cases. During the last decade, many genes and
mutations associated with epilepsies have been identified. To
find out the genuine cause of the epilepsy in Pakistani idiopathic
epilepsy patients was the major factor behind this project. Five
patients suffering from early infantile were selected on the
basis of the clinical findings. Although it is understood that
SCN1A gene is the most causative factor for genetic epilepsies
and majority of the cases of early infantile are found to be
responsible by SCN1A gene. In current study Central Punjab
from Pakistan was selected for the identification of epilepsy
patients toconductmolecular study fornowand future. Epilepsy
questionnaire (from NINDS) was used which is the short form
of the questionnaire. Whole Exome sequencing was the key
technique to find out the molecular alterations. Aminoacyl-
tRNA synthetases are indispensable enzymes in protein
production because they allege tRNAs with their cognate amino
acids. In this study we found that epileptic encephalopathy,
early infantile, 29 is caused by the mutation in AARS gene.
e:
sumaira.kanwal@ciitsahiwal.edu.pkBiomed Res, Volume 30
DOI: 10.4066/biomedicalresearch-C1-026