Investigation of epilepsy and corpus callosum dysplasia associated genes within children

The corpus callosum(CC) which connects two hemispheres, has been found to play a role in various sensory and motor functions such as binocular convergence and stereoscopic vision, the transfer of learned visual discrimination, bimanual coordination, sound localization, various learning processes. Dysplasia of the corpus callosum is a birth defect that occurs in many different human congenital syndromes. Dysplasia of CC is often associated with other cerebral and/or extracerebral malformations including syndromes and metabolic diseases. Its prevalence varies between 0.3% and 0.7% in the general population. Prognosis of dysplasia of CC remains controversial, several studies have reported a worse prognosis in the presence of additional anomalies. The most common clinical feature is mental retardation together with epilepsy. Recently, there is a controversial topic that AKT3 associsted with dysplasia of CC among the researchers. Because of this, we initially researched for any mutation in this gene. All of the exon and exons/introns boundaries of AKT3 gene that plays a role in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake has been amplified by Polymerase Chain Reaction(PCR) followed by DNA sequencing. As a result of sequence analysis we detected two nucleotide changes in 47 patients with dysplasia of CC. However, it is uncertain how these two nucleotide changes modify structural and functional features of AKT3. We aim to contribute to controversy about AKT3 gene association with dysplasia of CC with our results.