000			03534nam a2200193Ia 4500
005			20151005152014.0
008			150525s2011 xx 000 0 und d
041			_aeng
082			_a1388,T
100			_aSalma siddique _97948
110			_cDr.Muhammad Wasim _95021
245			_aAlayisis Of Sodium Channel Subunit Beta-1 ( Scnib ) Mutations Involved In Generalized Epilepsy With Febrile Seizures
260			_c2011
502			_aEpilepsy is, one of the most common disorders of the brain, a common neurological condition defined by recurrent and unprovoked seizures. Epilepsy affects 50 million people worldwide, including one in every 200 children. Febrile Seizures (FS) are not thought of as a true epileptic disease but rather as a special syndrome characterized by its provoking factor (high grade fever) and a typical range of 6 months to 6 years. The patients with generalized epilepsy with febrile seizure plus (GEFS+) show febrile seizures initially, lasting beyond 6 years of age, and afebrile seizures occur with multiple types, mainly with generalized seizures but sometimes with focal seizures. Studies have shown that genetic factors play an important role in the pathogenesis of GEFS+ and other types of epilepsy. Mutations in a number of genes have been identified that leads to the various types of epilepsy. Sodium channel subunit beta-l (SCN1B) was the first gene identified to be associated with febrile seizures. However, very little work has been done on SCNl B gene in epilepsy patients, especially in Pakistan. The present study was conducted to understand the comprehensive role of SCN1B gene in GEFS+ patients. Blood samples of unrelated true representative of generalized epilepsy with febrile seizures plus were collected from psychiatry and preventive pediatrics departments of various hospitals of Lahore. DNA was extracted and amplified with specially designed primers and sequencing of the peR products was also done. Analysis of the sequences and SNPs/mutations was done with the help of appropriate bioinformatics softwares. In the present study, polymorphism analysis of human SCNIB gene isolated from healthy and diseased Pakistani individuals (suffering from neurological disorder, GEFs+) have been investigated for genetic association. Novel mutation IVS2-1 G> T in splice acceptor site of exon 3 have also been identified from Pakistani GEFS+ patients. This mutation was absent in the healthy (control) sample. This is first report of gene characterization and polymorphism of Human SCNI B gene from Pakistan. Likewise, in the last 15 years, several mutations in the genes have been identified which were associated with GEFs+. In addition to detecting new mutations and identifying new genes, further studies are required to elucidate the particular role of furtive mutations, genetic milieu, environment, or random events on the individual's phenotype. This study has opened a new avenue in medical sciences in Pakistan, which will help the scientists to work on genetic disease following the methodologies used in this study. The outcome of this study can further be used to confirm the hypotheses through animal modeling and proteomics. The mutation found in this study may add the information in gene databanks, which ultimately help the scientist to develop the gene therapies for genetic diseases.
650			_aInstitute of Biochemistry & Biotechnology _95022
700			_aDr. Abu saeed hashmi _95240
700			_aDr. Atif Hanif _916602
942			_cTH
999			_c3097 _d3097