Alayisis Of Sodium Channel Subunit Beta-1 ( Scnib ) Mutations Involved In Generalized Epilepsy With Febrile Seizures (Record no. 3097)

000 -LEADER
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
Holdings
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


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