An observational study in Epilepsy, sponsored by Sohag University. Status unknown. Open to participants aged 1 Year to 15 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2021-10-27.
Sponsored by Sohag University · Observational
Epilepsy is a common neurological condition that affects people of all ages.Recent studies found that epilepsy is associated with several chromosomal regions, where mutations in these regions cause neurological dysfunction.
BDNF which is the most ample neurotropic factor in the CNS, has survival and growth promoting roles in a variety of neurons. It has been shown to promote excitatory (glutamatergic) synapses while weakening inhibitory (GABAergic) ones.
A nonsynonymous G to A single-nucleotide polymorphism (SNP) exists at position 196 of exon 2 (rs6265), which results in valine (val) to methionine (met) substitution. This polymorphism affects intracellular packaging of pro-BDNF, its axonal transport and in turn, activity-dependent secretion of BDNF at the synapse.
Epilepsy was defined as the separate occurrence of two or more unprovoked seizures, manifested by involuntary motor, sensory, or autonomic, alone or in combination, and not diagnosed as neonatal or febrile seizures. Despite extensive studies, the molecular causes of the disease are not yet discovered completely. A functional imbalance between excitatory (transmitted by glutamate) and inhibitory signals (transmitted by γ-amino butyric acid or GABA) in neural cells has been regarded as a putative contributing factor in epilepsy.
The brain-derived neurotropic factor (BDNF) encodes a small dimeric protein which is the most ample neurotropic factor in the CNS.It has been shown to promote excitatory (glutamatergic) synapses while weakening inhibitory (GABAergic) ones.Any interference with the BDNF signaling pathway may negatively affect downstream neuronal functions and cause neuronal diseases.
A nonsynonymous G to A single-nucleotide polymorphism (SNP) exists at position 196 of exon 2 (rs6265), which results in valine (val) to methionine (met) substitution at codon 66 (val66met), changing the 5' proregion of the human BDNF protein. This polymorphism affects intracellular packaging of pro-BDNF, its axonal transport and in turn, activity-dependent secretion of BDNF at the synapse
1,805 studies on the registry are indexed under Epilepsy; 417 are open to participants now.
This study's planned enrollment of 90 is below the median of 102 across 521 observational studies indexed under Epilepsy.
Browse Epilepsy studies →Sohag University is the lead sponsor of 1,183 studies on the registry; 612 are open to participants now.
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Patients with epilepsy aged from 1 year to less than 15 years, in Pediatric department of Sohag University Hospital and healthy control children of matched age and sex
Exclusion Criteria:
patients with epilepsy
Genetic: Genotyping by Real Time PCR
apparently healthy controls with no chronic illness of matched age and sex
Genetic: Genotyping by Real Time PCR
3 mL of blood will be withdrawn by venipuncture in EDTA tube. DNA extraction will be done after centrifugation and used for genotyping assay of ( BDNF ) gene with the Real- time polymerase chain reaction. BDNF level in serum will also be analyzed by Sandwich enzyme linked immunosorbant assay kit ( ELISA).
Iinvestigate the possible association between BDNF rs6265 polymorphism and epilepsy susceptibility in Egyptian patients
Genotyping assay of ( BDNF ) rs6265 gene polymorphism by the Real- time polymerase chain reaction.
Time frame: within 3 days after collection of samples
Assess the utility of serum BDNF concentration as a diagnostic tool for Epilepsy and evaluate its relationship with disease severity
Measurement BDNF level in serum by Sandwich enzyme linked immunosorbant assay kit
Time frame: within 3 days after collection of samples
No study locations are listed for this record.
This study is status unknown, as verified in Oct 2021. You cannot join it, but the record below documents what was studied.
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Sohag University