Genetics in epilepsy

Genetic etiologies play an important role in previously called Idiopathicepilepsies as well as some cases of Lesional epilepsies . Genetic tests arenow available for diagnosis of some epileptic syndromes such as Dravetsyndrome or KCNQ2 encephalopathy .Some cases of the idiopathic (genetic) epilepsies with a known molecularbasis are channelopathies. They include disorders of sodium channel,potassium channel or GABA receptors.Mutations of the nicotinic acetylcholine receptor subunits are seen in familialnocturnal frontal lobe epilepsies.Chromosomal abnormalities are another cause of genetic epilepsies. Ringchromosome 20 is an obvious example which may cause drug resistantepilepsy.X-linked epileptic spasm can be caused by a mutation in the CDKL5gene or theARX gene in the X chromosome.On the other hand, epilepsy is one of the main clinical manifestations of somegenetic diseases such as tuberous sclerosis, angelman syndrome or rettsyndrome.New gene detection such as DEPDC5 gene clarify the role of mTOR pathwayin some cases of focal cortical dysplasia.In this short oral lecture, I’ll discuss the important role of genetics in epilepsy.