Northern epilepsy

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Northern epilepsy (variant of neuronal corticosteroid type 8, CLN8, northern epilepsy) - rare lysosomal storage disorder of neuronal ceroidolipofuscynoz. It is caused by mutations in the CLN8 gene encoding the membrane of an endoplasmic reticulum with an unknown function. Mutations in the same genus are reported as progressive epilepsy with dementia in early postnatal period, described in children of Turkish origin; They are therefore allelic diseases.

The disease is described so far in Finland only. All Finnish patients are homozygous for the Arg24Gly mutation in the CLN8 gene. The frequency of heterozygotes in the Finnish population is 1: 135. It is believed that, as with many other genetic diseases in the Finnish population, it is responsible for the effect of the founder (see Genetic Diseases in the Finnish Population). Bibliography

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