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Inherited Epilepsies

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dc.contributor.authorVelioğlu, Halil Aziz
dc.contributor.institutionauthorBEKTAY, MUHAMMED YUNUS
dc.date.accessioned2020-06-24T22:30:09Z
dc.date.available2020-06-24T22:30:09Z
dc.date.issued2019-07-01T00:00:00Z
dc.description.abstractMutations 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.
dc.description.sponsorshipABD Sağlık ve İnsan Hizmetleri Bakanlığı
dc.identifier.citationVelioğlu HA, Bektay MY. Inherited Epilepsies. Bezmialem Science 2020;8(2):182-9.
dc.identifier.doi10.14235/bas.galenos.2019.3036
dc.identifier.trdizin362423
dc.identifier.urihttps://hdl.handle.net/20.500.12645/18159
dc.identifier.wosWOS:000560706400014
dc.subjectEpilepsy
dc.subjectchannelopathies
dc.subjectinherited epilepsy
dc.subjectgenetic mutations
dc.titleInherited Epilepsies
dc.typeArticle
dspace.entity.typePublication
local.avesis.idb33437a9-6076-4fc6-8b9a-9b5ba29cd688
local.publication.isinternational1
relation.isAuthorOfPublication4381d351-4283-4aac-aaa9-56ba24c96613
relation.isAuthorOfPublication.latestForDiscovery4381d351-4283-4aac-aaa9-56ba24c96613
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