About: Northern epilepsy syndrome

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Northern epilepsy syndrome (NE), 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 on 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 pro

Attributes	Values
rdf:type	Thing Disease yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720
rdfs:label	Northern epilepsy syndrome (en) Padaczka północna (pl)
rdfs:comment	Padaczka północna, in. postępująca padaczka z otępieniem, ceroidolipofuscynoza neuronalna typu 8 (ang. northern epilepsy syndrome, neuronal ceroid lipofuscinosis, ceroid lipofuscinosis neuronal type 8, CLN8 disease) – genetycznie uwarunkowana, dziedziczona recesywnie, rzadka lizosomalna choroba spichrzeniowa z grupy ceroidolipofuscynoz neuronalnych, charakteryzująca się padaczką pojawiająca się w okresie przedszkolnym oraz postępującą od tego momentu niepełnosprawnością intelektualną. (pl) Northern epilepsy syndrome (NE), 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 on 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 pro (en)
foaf:name	Northern epilepsy syndrome (en)
name	Northern epilepsy syndrome (en)
foaf:depiction
dcterms:subject	Health in Finland Rare syndromes
Wikipage page ID	22914405 (xsd:integer)
Wikipage revision ID	1042665026 (xsd:integer)
Link from a Wikipage to another Wikipage	Epilepsy Neuronal ceroid lipofuscinosis Benzodiazepine Anticonvulsant Applied Biosystems Depolarization Rare disease Clonazepam GABA Glycine Health in Finland MRI Partial seizure Autosomal recessive Tonic–clonic seizure GABAA receptor Codon Alzheimer's disease Finland Central nervous system Chromosome 8 Rare syndromes Telomere Hyperpolarization (biology) EEG Transmembrane protein Arginine ATP synthase ATP synthase subunit C Kainuu Missense mutation DNA sequence CLN8 Exome sequencing Finnish heritage disease Sanger sequencing Chromosomal abnormalities Sodium ion channels Sodium valproate Β amyloid Sphingolipid activator proteins
sameAs	Northern epilepsy syndrome Northern epilepsy syndrome Northern epilepsy syndrome Northern epilepsy syndrome Northern epilepsy syndrome Northern epilepsy syndrome
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist
thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
DiseasesDB	33514 (xsd:integer)
ICD	E75.4 (en)
OMIM	610003 (xsd:integer)
Orphanet	1947 (xsd:integer)
caption	This condition is inherited in an autosomal recessive manner. (en)
synonyms	Neuronal ceroid lipofuscinosis, Northern epilepsy variant (en)
has abstract	Northern epilepsy syndrome (NE), 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 on 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. (en) Padaczka północna, in. postępująca padaczka z otępieniem, ceroidolipofuscynoza neuronalna typu 8 (ang. northern epilepsy syndrome, neuronal ceroid lipofuscinosis, ceroid lipofuscinosis neuronal type 8, CLN8 disease) – genetycznie uwarunkowana, dziedziczona recesywnie, rzadka lizosomalna choroba spichrzeniowa z grupy ceroidolipofuscynoz neuronalnych, charakteryzująca się padaczką pojawiająca się w okresie przedszkolnym oraz postępującą od tego momentu niepełnosprawnością intelektualną. (pl)
MeSH	D009472 (en)
gold:hypernym	Subtype
prov:wasDerivedFrom	wikipedia-en:Northern_epilepsy_syndrome?oldid=1042665026&ns=0
page length (characters) of wiki page	9336 (xsd:nonNegativeInteger)
DiseasesDB	33514
ICD10	E75.4
OMIM id	610003 (xsd:integer)
ORPHA	1947
foaf:isPrimaryTopicOf	wikipedia-en:Northern_epilepsy_syndrome
is Link from a Wikipage to another Wikipage of	List of diseases (N) Neuronal ceroid lipofuscinosis Batten disease Health in Finland List of syndromes Finnish heritage disease Progressive epilepsy with mental retardation
is Wikipage redirect of	Progressive epilepsy with mental retardation

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