Alayisis Of Sodium Channel Subunit Beta-1 ( Scnib ) Mutations Involved In Generalized Epilepsy With Febrile Seizures (Record no. 3097)
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| fixed length control field | 03534nam a2200193Ia 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20151005152014.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 150525s2011 xx 000 0 und d |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | eng |
| 082 ## - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 1388,T |
| 100 ## - MAIN ENTRY--AUTHOR NAME | |
| Personal name | Salma siddique |
| 110 ## - MAIN ENTRY--CORPORATE NAME | |
| Location of meeting | Dr.Muhammad Wasim |
| 245 ## - TITLE STATEMENT | |
| Title | Alayisis Of Sodium Channel Subunit Beta-1 ( Scnib ) Mutations Involved In Generalized Epilepsy With Febrile Seizures |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) | |
| Year of publication | 2011 |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Epilepsy 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 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical Term | Institute of Biochemistry & Biotechnology |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dr. Abu saeed hashmi |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dr. Atif Hanif |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | Thesis |
| Damaged status | Collection code | Permanent Location | Current Location | Shelving location | Date acquired | Full call number | Accession Number | Koha item type |
|---|---|---|---|---|---|---|---|---|
| Veterinary Science | UVAS Library | UVAS Library | Thesis Section | 2015-05-29 | 1388,T | 1388,T | Thesis |