Northern epilepsy syndrome

There is nothing that has been found to stop the progression of the disease, but symptomatic approaches, such as the use of benzodiazepines, have helped control seizures.

[4] Mental function has a rapid decline, as observed by a lack of coordination, failure to complete education and fine motor activities.

[4] Northern epilepsy syndrome is caused by an inherited autosomal recessive mutation in the telomeric region of the short arm of chromosome 8.

This primary mutation can also be paired with a missense at codon 237, where an arginine takes the place of a glycine.

[2] An accumulation of transmembrane protein is seen in the brain tissue of Northern epilepsy patients.

[4] CLN8 has been linked to the accumulation of subunit c of mitochondrial ATP synthase and a small amount of sphingolipid activator proteins in the neurons.

[4] A patient's DNA is sequenced from a blood sample with the use of the ABI Big Dye Terminator v.3.0 kit.

[4] These tests identify lipid content of the brain, and any anomaly from the norm may be linked to Northern epilepsy.

[citation needed] Life expectancy is only moderately affected by NE because the rate of disease progression is slow.

[citation needed] Northern epilepsy was not initially recognized as a neuronal ceroid lipofuscinosis (NCL).