Supervisors info:
Δρακούλης Νικόλαος, Επίκουρος Καθηγητής του Τομέα Φαρμακευτικής Τεχνολογίας, Τμήμα Φαρμακευτικής, Σχολή Επιστημών Υγείας, Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών
Summary:
Epilepsy is the 4th most common neurological disorder worldwide. Although, in most cases, the cause of epilepsy remains unknown, it can also, be a result of brain injury, infections, brain tumors or other neurological disorders. Epilepsy is characterized by spontaneous recurrent seizures due to abnormal excessive and synchronous neuronal activity in the brain (epileptic seizures). The impact of epilepsy is multifaceted and its effects vary. Typically, an epileptic seizure last from few seconds up to few minutes.
There are more than 20 anti-epileptic drugs (AEDs) available on the market. Treatment with AEDs is used to suppress seizures or to reduce their frequency, through restoration of normal brain activity. However, approximately, 30-40% of epileptic patients fail to respond to current medications, thus, these patients are characterized as drug-resistant.
The mechanism of drug resistance has not been elucidated. However, genetic polymorphisms in genes, which encode molecular targets of anti-epileptic drugs, may be a contributing factor. Pharmacogenetics studies the inherited genetic variation, which can affect responses to drugs, both in terms of therapeutic effect as well as adverse effects.
SCN1A gene is located on Chromosome 2 (2q24.3) and encodes the a-subunit of voltage-gated sodium channels NaV1.1 in the brain. Voltage-gated sodium channels are responsible for action potential initiation and propagation, thus the excitability of cells. Until now, in gene SCN1A more than 1000 genetic polymorphisms have been described and associated with susceptibility to epilepsy and drug response.
The purpose of this study is to investigate the correlation of 3 polymorphisms in SCN1A gene, rs2298771, rs3812718 and rs10188577, with the susceptibility to epilepsy and drug response to anti-epileptic drugs which act as blockers of voltage-gated sodium channels.
