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- Northern_epilepsy_syndrome 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.".
- Northern_epilepsy_syndrome omim "610003".
- Northern_epilepsy_syndrome wikiPageID "22914405".
- Northern_epilepsy_syndrome wikiPageLength "8010".
- Northern_epilepsy_syndrome wikiPageOutDegree "34".
- Northern_epilepsy_syndrome wikiPageRevisionID "704882210".
- Northern_epilepsy_syndrome wikiPageWikiLink ATP_synthase_subunit_C.
- Northern_epilepsy_syndrome wikiPageWikiLink Amyloid_beta.
- Northern_epilepsy_syndrome wikiPageWikiLink Anticonvulsant.
- Northern_epilepsy_syndrome wikiPageWikiLink Arginine.
- Northern_epilepsy_syndrome wikiPageWikiLink Benzodiazepine.
- Northern_epilepsy_syndrome wikiPageWikiLink CLN8.
- Northern_epilepsy_syndrome wikiPageWikiLink Category:Health_in_Finland.
- Northern_epilepsy_syndrome wikiPageWikiLink Category:Rare_diseases.
- Northern_epilepsy_syndrome wikiPageWikiLink Chromosome.
- Northern_epilepsy_syndrome wikiPageWikiLink Clonazepam.
- Northern_epilepsy_syndrome wikiPageWikiLink Electroencephalography.
- Northern_epilepsy_syndrome wikiPageWikiLink Epilepsy.
- Northern_epilepsy_syndrome wikiPageWikiLink Exome_sequencing.
- Northern_epilepsy_syndrome wikiPageWikiLink Finland.
- Northern_epilepsy_syndrome wikiPageWikiLink Finnish_heritage_disease.
- Northern_epilepsy_syndrome wikiPageWikiLink GABAA_receptor.
- Northern_epilepsy_syndrome wikiPageWikiLink Gamma-Aminobutyric_acid.
- Northern_epilepsy_syndrome wikiPageWikiLink Genetic_code.
- Northern_epilepsy_syndrome wikiPageWikiLink Glycine.
- Northern_epilepsy_syndrome wikiPageWikiLink Magnetic_resonance_imaging.
- Northern_epilepsy_syndrome wikiPageWikiLink Missense_mutation.
- Northern_epilepsy_syndrome wikiPageWikiLink Neuronal_ceroid_lipofuscinosis.
- Northern_epilepsy_syndrome wikiPageWikiLink Nucleic_acid_sequence.
- Northern_epilepsy_syndrome wikiPageWikiLink Partial_seizure.
- Northern_epilepsy_syndrome wikiPageWikiLink Rare_disease.
- Northern_epilepsy_syndrome wikiPageWikiLink Sanger_sequencing.
- Northern_epilepsy_syndrome wikiPageWikiLink Tonic–clonic_seizure.
- Northern_epilepsy_syndrome wikiPageWikiLink Valproate.
- Northern_epilepsy_syndrome wikiPageWikiLinkText "Northern epilepsy syndrome".
- Northern_epilepsy_syndrome wikiPageWikiLinkText "northern epilepsy syndrome".
- Northern_epilepsy_syndrome diseasesdb "33514".
- Northern_epilepsy_syndrome mesh "D009472".
- Northern_epilepsy_syndrome name "Northern epilepsy syndrome".
- Northern_epilepsy_syndrome omim "610003".
- Northern_epilepsy_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Northern_epilepsy_syndrome wikiPageUsesTemplate Template:Reflist.
- Northern_epilepsy_syndrome subject Category:Health_in_Finland.
- Northern_epilepsy_syndrome subject Category:Rare_diseases.
- Northern_epilepsy_syndrome hypernym Subtype.
- Northern_epilepsy_syndrome type Disease.
- Northern_epilepsy_syndrome type Thing.
- Northern_epilepsy_syndrome type Q12136.
- Northern_epilepsy_syndrome 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.".
- Northern_epilepsy_syndrome label "Northern epilepsy syndrome".
- Northern_epilepsy_syndrome sameAs Q7059204.
- Northern_epilepsy_syndrome sameAs Pohjoinen_epilepsia.
- Northern_epilepsy_syndrome sameAs m.0641czn.
- Northern_epilepsy_syndrome sameAs Q7059204.
- Northern_epilepsy_syndrome wasDerivedFrom Northern_epilepsy_syndrome?oldid=704882210.
- Northern_epilepsy_syndrome isPrimaryTopicOf Northern_epilepsy_syndrome.
- Northern_epilepsy_syndrome name "Northern epilepsy syndrome".