{"orpha":1947,"name":"Northern epilepsy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CLN8 disease, Northern epilepsy variant","NCL, Northern epilepsy variant","Neuronal ceroid lipofuscinosis, Northern epilepsy variant","Progressive epilepsy-intellectual disability syndrome, Finnish type"],"definition":null,"note":"This disease is described under CLN8 disease","url":"https://raremap.alftech.space/d/ORPHA-1947/","orphanet_url":"https://www.orpha.net/en/disease/detail/1947","names":{"fr":{"name":"Epilepsie nordique","synonyms":["CLN, variante épilepsie nordique","Céroïde-lipofuscinose neuronale, variante épilepsie nordique","Maladie CLN8, variante épilepsie nordique","NCL, variante épilepsie nordique","Syndrome d'épilepsie-déficience intellectuelle type finnois"]},"de":{"name":"Nordische Epilepsie","synonyms":["CLN8-assoziierte nordische NCL-Variante","Ceroid-Lipofuszinose, neuronale, nordische Epilepsie-Variante","Nordische Epilepsie, CLN8-assoziierte","Progressive Epilepsie-Intelligenzminderung-Syndrom, Finnischer Typ"]},"es":{"name":"Epilepsia del norte","synonyms":["Ceroidolipofuscinosis neuronal, variante epiléptica del norte","Enfermedad CLN8, variante epiléptica del norte","NCL, variante epiléptica del norte","Síndrome de epilepsia progresiva-discapacidad intelectual tipo finlandés"]},"it":{"name":"Epilessia nordica","synonyms":["Ceroidolipofuscinosi neuronale, variante epilessia nordica","Malattia CLN8, variante epilessia nordica","NCL, variante epilessia nordica"]},"nl":{"name":"Noordse epilepsie","synonyms":["CLN8-ziekte, Noordse epilepsie-variant","NCL, Noordse epilepsie-variant","Neuronale ceroïdlipofuscinose, Noordse epilepsie-variant","Progressieve epilepsie - intellectuele achterstand-syndroom, Fins type"]},"pt":{"name":"Epilepsia do Norte","synonyms":["Doença CLN8, variante da epilepsia do Norte","Lipofuscinose ceroide neuronal, variante da epilepsia do Norte","NCL, variante da epilepsia do Norte","Síndrome de epilepsia progressiva-perturbação do desenvolvimento intelectual, tipo finlandês"]},"pl":{"name":"Postępująca padaczka - niepełnosprawność intelektualna, typ fiński","synonyms":["Ceroidolipofuscynoza neuronalna, wariant padaczki północnej","Choroba CLN8, północny wariant padaczki","NCL, północny wariant padaczki","Padaczka północna"]},"cs":{"name":"Syndrom zahrnující progresivní epilepsii a mentální retardaci, finský typ","synonyms":["CLN8, varianta severské epilepsie","NCL, varianta severské epilepsie","Neuronální ceroidní lipofuscinóza, varianta severské epilepsie","Severská epilepsie"]},"uk":{"name":"Синдром прогресуючої епілепсії-інтелектуальної недостатності, фінський тип","synonyms":["Хвороба CLN8, північний епілептичний варіант","NCL, північний епілептичний варіант","Нейрональний цероїдний ліпофусциноз, північний епілептичний варіант","Північна епілепсія"],"definition":"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision."},"zh":{"name":"渐进性癫痫-智障综合征，芬兰型","synonyms":["北方癫痫变异型神经元蜡样质脂褐质沉积症8型"]},"tr":{"name":"İlerleyici epilepsi-zihinsel yetersizlik sendromu, Fin tipi","synonyms":["Northern epilepsi","NCL, Northern epilepsi varyantı","CLN8 hastalığı, Northern epilepsi varyantı","Nöronal seroid lipofusinozis, Northern epilepsi varyantı"]}},"xrefs":[{"source":"OMIM","code":"610003","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-11","code":"5C56.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1529318668"},{"source":"MONDO","code":"0012391","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864923","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4010","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":228354,"name":"CLN8 disease","classifications":[150,156,181,189]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"CLN8","name":"CLN8 transmembrane ER and ERGIC protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21990111[PMID]","hgnc":"2079","ensembl":"ENSG00000182372","omim":"607837","loci":["8p23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-17","source":"31982899[PMID]_30741402[PMID]_30470609[PMID]","terms":[{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003657","label":"Granular osmiophilic deposits (GROD) in cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003204","label":"Intracellular accumulation of autofluorescent lipopigment storage material","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030455","label":"Abnormality of pattern visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003205","label":"Curvilinear intracellular accumulation of autofluorescent lipopigment storage material","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003698","label":"Difficulty standing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011203","label":"EEG with abnormally slow frequencies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011198","label":"EEG with generalized epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003208","label":"Fingerprint intracellular accumulation of autofluorescent lipopigment storage material","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002333","label":"Motor deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033044","label":"Motor regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000550","label":"Undetectable electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012690","label":"T2 hypointense thalamus","frequency":"Occasional (29-5%)","criteria":null}]}}