{"orpha":166412,"name":"Hot water reflex epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HWE"],"definition":"Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166412/","orphanet_url":"https://www.orpha.net/en/disease/detail/166412","names":{"fr":{"name":"Epilepsie réflexe à l'eau chaude","definition":"L'épilepsie réflexe à l'eau chaude est une maladie neurologique rare caractérisée par l'apparition de convulsions focales ou généralisées après l'immersion de la tête dans l'eau chaude, ou lorsque de l'eau chaude est versée sur la tête. Des convulsions toniques cloniques généralisées primaires ont été rapportées dans de rares cas."},"de":{"name":"Warmwasser-Reflexepilepsie","synonyms":["HWE","Warmwasser-Epilepsie"],"definition":"Die Warmwasser-Reflexepilepsie ist eine seltene neurologische Erkrankung, die durch das Auftreten von generalisierten oder fokalen Anfällen nach Eintauchen des Kopfes in heißes Wasser oder durch Übergießen des Kopfes mit heißem Wasser gekennzeichnet ist. Über primäre generalisierte tonisch-klonische Anfälle wurde in seltenen Fällen berichtet."},"es":{"name":"Epilepsia refleja por agua caliente","definition":"La epilepsia refleja por agua caliente es una epilepsia poco frecuente que se caracteriza por la aparición de crisis focales o generalizadas a consecuencia de la inmersión de la cabeza en agua caliente o de verter agua caliente sobre la misma. En raras ocasiones, se han observado convulsiones tónico-clónicas generalizadas primarias."},"it":{"name":"Epilessia riflessa da acqua calda","synonyms":["HWE"],"definition":"L'epilessia riflessa da acqua calda è una malattia neurologica rara caratterizzata da crisi epilettiche generalizzate o focali scatenate dall'immersione della testa nell' acqua calda, oppure dal versamento di acqua calda sulla testa. Sono stati descritti rari casi di crisi generalizzate tonico-cloniche."},"nl":{"name":"Heet water-reflexepilepsie","synonyms":["HWE","Reflexepilepsie door contact met heet water"],"definition":"Heet water-reflexepilepsie is een zeldzame neurologische ziekte die gekarakteriseerd wordt door de aanvang van gegeneraliseerde of focale insulten na onderdompeling van het hoofd in heet water, of nadat heet water over het hoofd werd gegoten. In zeldzame gevallen werden primaire gegeneraliseerde tonisch-clonische insulten gerapporteerd."},"pt":{"name":"Epilepsia reflexa a água quente","synonyms":["HWE"]},"pl":{"name":"Padaczka prowokowana ciepłą wodą","synonyms":["HWE"]},"cs":{"name":"Reflexní epilepsie indukovaná horkou koupelí","synonyms":["HWE"]},"uk":{"name":"Епілепсія з рефлекторними судомами, повязаними з дією високих температур","definition":"Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases."},"zh":{"name":"热水反射性癫痫","definition":"热水反射性癫痫是一种罕见的神经系统疾病，其特征是头部浸泡于热水中或热水浇于头部上方后，出现全身性或局灶性癫痫发作。在罕见病例中，有过原发性全身性强直阵挛性癫痫发作的报道。"},"tr":{"name":"Sıcak su refleks epilepsisi"}},"xrefs":[{"source":"OMIM","code":"613339","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"613340","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.40","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"197153111"},{"source":"MONDO","code":"0013229","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706506","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":310,"name":"Reflex epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC1A1","name":"solute carrier family 1 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28324217[PMID]","hgnc":"10939","ensembl":"ENSG00000106688","omim":"133550","loci":["9p24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Worldwide","status":"Validated","source":"27986877[PMID]_29403278[PMID]_ORPHANET"}],"phenotypes":null}