Özet:

Mutations in genes encoding the formation of ion channels may cause epileptic syndromes. These epileptic syndromes are generally divided into generalized and partial epilepsies. Among the causative agents of generalized epilepsy showing mendelian or non-mendelian inheritance; mutations in sodium channel, calcium channel, GABAA receptor and nicotinic receptor can be listed. Generalized epilepileptic syndromes with mendelian inheritance are Genetic Epilepsy With Febrile Seizures Plus, Autosomal Dominant Juvenile Myoclonic Epilepsy, and Epilepsy Associated With CLCN2 Gene Mutation. Generalized epileptic syndromes with non-mendelian inheritance are JME and Juvenile Absence Epilepsy With Generalized Tonic-Clonic Seizures. The epilepsies of newborns and infants with a single gene inheritanceare classified into three categories: Benign Familial Neonatal Convulsions, Benign Familial Infantile Convulsions, and Benign Familial Neonatal-Infantile Seizures. Autosomal dominant partial epilepsies are examined under the headings of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, Familial Mesial Temporal Lobe Epilepsy, Familial Lateral Temporal Lobe Epilepsy, and Autosomal Dominant Partial Epilepsy With Auditory Features. While various mutations in different ion channels can produce similar phenotypes, a certain mutation on the same gene can cause different phenotypes. This review provides a summary of the epilepsy classification on the genetic basis and pathophysiological effects of neural channelopathies causing epileptic syndromes.

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