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- Q7059204 subject Q5929918.
- Q7059204 subject Q6853484.
- Q7059204 abstract "Northern epilepsy syndrome or progressive epilepsy with mental retardation (EPMR) is a subtype of neuronal ceroid lipofuscinosis and a rare disease that is regarded as a Finnish heritage disease. Unlike most Finnish heritage diseases, this syndrome has been reported only in Finland.The disease is characterized by seizures in early childhood that progressively get worse until after puberty. Once the onset of seizures occurs, mental degradation is seen. This continues into adulthood even after seizure frequency has decreased. The cause of the disease is a missense mutation in chromosome 8. The creation of a new protein occurs and the lipid content of the brain is altered because of it. The ratio of the mutation carriers is 1:135. 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.".
- Q7059204 omim "610003".
- Q7059204 wikiPageWikiLink Q1406803.
- Q7059204 wikiPageWikiLink Q161238.
- Q7059204 wikiPageWikiLink Q173670.
- Q7059204 wikiPageWikiLink Q17916977.
- Q7059204 wikiPageWikiLink Q179965.
- Q7059204 wikiPageWikiLink Q180618.
- Q7059204 wikiPageWikiLink Q181940.
- Q7059204 wikiPageWikiLink Q210021.
- Q7059204 wikiPageWikiLink Q240642.
- Q7059204 wikiPageWikiLink Q2567857.
- Q7059204 wikiPageWikiLink Q2656896.
- Q7059204 wikiPageWikiLink Q33.
- Q7059204 wikiPageWikiLink Q37748.
- Q7059204 wikiPageWikiLink Q407988.
- Q7059204 wikiPageWikiLink Q41571.
- Q7059204 wikiPageWikiLink Q417667.
- Q7059204 wikiPageWikiLink Q4358039.
- Q7059204 wikiPageWikiLink Q4654888.
- Q7059204 wikiPageWikiLink Q5420592.
- Q7059204 wikiPageWikiLink Q576618.
- Q7059204 wikiPageWikiLink Q5929918.
- Q7059204 wikiPageWikiLink Q60147.
- Q7059204 wikiPageWikiLink Q620730.
- Q7059204 wikiPageWikiLink Q6853484.
- Q7059204 wikiPageWikiLink Q7140388.
- Q7059204 wikiPageWikiLink Q83871.
- Q7059204 wikiPageWikiLink Q863908.
- Q7059204 wikiPageWikiLink Q929833.
- Q7059204 name "Northern epilepsy syndrome".
- Q7059204 omim "610003".
- Q7059204 type Disease.
- Q7059204 type Thing.
- Q7059204 type Q12136.
- Q7059204 comment "Northern epilepsy syndrome or progressive epilepsy with mental retardation (EPMR) is a subtype of neuronal ceroid lipofuscinosis and a rare disease that is regarded as a Finnish heritage disease. Unlike most Finnish heritage diseases, this syndrome has been reported only in Finland.The disease is characterized by seizures in early childhood that progressively get worse until after puberty. Once the onset of seizures occurs, mental degradation is seen.".
- Q7059204 label "Northern epilepsy syndrome".
- Q7059204 name "Northern epilepsy syndrome".