Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability.

High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like epileptic seizures, autism and additional congenital anomalies. These observations require whole genome approach in order to detect the genetic causes of these complex disorders.

Glutamatergic neurotransmission in the first retinal synapse mediated by metabotropic receptors--electroretinographic study.

Aim: The aim of this study was to better characterize glutamatergic synaptic transmission between photoreceptors and retinal ON-bipolar cells. For this purpose we investigated the effect of L-serine orthophosphate (L-SOP) (an agonist of the group III metabotropic receptors) on the mass (electroretinographic) response of the ON-bipolar cells, which was obtained by isolated stimulation of the rods or the cones.

Materials And Methods: Isolated frog eyecup preparations (Rana ridibunda) were subjected to perfusion with L-SOP solution in various concentrations--10, 30, 100, 300, 500 and 1000 micromol/l.