{"orpha":79097,"name":"Folinic acid-responsive seizures","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79097/","orphanet_url":"https://www.orpha.net/en/disease/detail/79097","names":{"fr":{"name":"Convulsions sensibles à l'acide folinique","definition":"Les convulsions sensibles à l'acide folinique constituent une encéphalopathie épileptique néonatale très rare, survenant entre plusieurs heures à 5 jours après la naissance, caractérisée sur le plan clinique par des convulsions cloniques et myocloniques, ou cloniques associées à une apnée, sensibles à l'acide folinique."},"de":{"name":"Folinsäure-abhängige Anfälle","synonyms":["Folinsäure-abhängigen Krämpfe"],"definition":"Die Folinsäure-abhängigen Krämpfe, eine sehr seltene neonatale epileptische Enzephalopathie, sind gekennzeichnet durch myoklonische und klonische Krämpfe in Verbindung mit Apnoe. Die Symptome beginnen mehrere Stunden bis zu fünf Tagen nach der Geburt und sprechen auf die Anwendung von Folinsäure an."},"es":{"name":"Epilepsia sensible al ácido folínico","definition":"Las convulsiones sensibles al ácido folínico constituyen una encefalopatía epiléptica neonatal muy poco frecuente que se caracteriza clínicamente por convulsiones mioclónicas y clónicas, o clónicas asociadas con apnea que se producen tras horas del nacimiento hasta 5 días después y que responden al ácido folínico."},"it":{"name":"Convulsioni sensibili all'acido folinico","definition":"Le convulsioni sensibili all'acido folinico riguardano un'encefalopatia epilettica neonatale molto rara, caratterizzata da convulsioni cloniche o miocloniche e cloniche associate ad apnea, che insorgono alcune ore dopo la nascita o comunque entro i primi cinque giorni di vita e che rispondono al trattamento con acido folinico."},"nl":{"name":"Folinezuurresponsieve insulten","definition":"Een zeer zeldzame neonatale epileptische encefalopathie, klinisch gekenmerkt door myoclonische en clonische, of clonische insulten geassocieerd met apneu die enkele uren tot vijf dagen na de geboorte optreden en reageren op folinezuur."},"pt":{"name":"Convulsões sensíveis ao ácido folínico"},"pl":{"name":"Napady reagujące na kwas folinowy"},"cs":{"name":"Křeče reagující na folinát"},"uk":{"name":"Судоми, чутливі до фолінієвої кислоти","definition":"Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid."},"zh":{"name":"亚叶酸反应性癫痫"},"tr":{"name":"Folinik aside duyarlı nöbetler"}},"xrefs":[{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C59.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"723504178"},{"source":"MONDO","code":"0019197","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273952","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":79219,"name":"Metabolic disease involving other neurotransmitter deficiency","classifications":[150,156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"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":"2021-09-28","source":"25274592[PMID]_24080039[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012446","label":"Decreased CSF 5-methyltetrahydrofolate concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006808","label":"Cerebral hypomyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010845","label":"EEG with generalized slow activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040204","label":"Elevated CSF neopterin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020221","label":"Clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006892","label":"Frontotemporal cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null}]}}