Epilepsy is a brain condition whose most common symptom is seizures. There are several reasons that are thought to be the cause of epilepsy which include fevers, trauma or injury to the brain, infections and brain malformations. However, evidence of a history of seizures running in a family has led to the discovery of epilepsy genes. There is ongoing research on epilepsy genes even though the identification of these genes is quite complicated.
In the beginning, epilepsy genes were though to play a role only in infant epilepsy or epilepsy in young children. However, it has now become apparent that the hereditary type of epilepsy can affect people at any age.
Some types of epilepsy are caused by single gene mutations even though this is very rare. More often, epilepsy is caused by mutations in several genes as well as environmental factors. This simply means that while genes may partly be responsible for epilepsy, environmental factors come into play and may increase the chances of an individual having an epileptic seizure.
There are many different types of epilepsy, but the types that are thought to be caused by epilepsy genes are divided depending on whether the epilepsy is caused by a single gene disorder or by several genes and environmental factors. It is vital to note that the gene disorders may result in epilepsy by itself or result in a condition that has epilepsy as one of the symptoms.
The epilepsy syndromes that have been identified as being caused by single epilepsy genes include generalized epilepsy with febrile seizures, autosomal dominant nocturnal frontal lone epilepsy, autosomal dominant partial epilepsy with variable foci, benign infantile familial convulsions, benign familial neonatal convulsions, familial temporal lobe epilepsy and PMEs (Progressive Myoclonus Epilepsies) which include Lafora’s disease, dentatorubral-pallidoluysian atrophy (DRPLA) and Unverricht-Lundborg disease.
The epilepsy syndromes that are thought to be caused by several factors including epilepsy genes and environmental factors include juvenile myoclonic epilepsy, juvenile absence epilepsy, childhood absence epilepsy, myoclonic astatic epilepsy, benign myoclonic epilepsy of infancy and benign epilepsy of childhood with centrotemporal spikes (BECTS).
Gene disorders that result in conditions that have epilepsy as one of the symptoms include fragile x syndrome, Acute intermittent porphyria, Tuberous sclerosis and Rett syndrome.
Research has indicated that there could be more than 500 types of epilepsy genes. Genes affect how the brain develops and it is for this reason that any mutations in the genes affect the functions of the brain and therefore may result in epilepsy. For instance, if certain genes mutate, they cause malformations in the brain which causes epilepsy.
Other genetic disorders that may be involved in epilepsy include chromosomal disorders, mitochondrial disorders which are caused by DNA mutations and epigenetic disorders.
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