{"entities":{"Q41032":{"pageid":31400,"ns":120,"title":"Item:Q41032","lastrevid":134761,"modified":"2026-08-13T07:04:53Z","type":"item","id":"Q41032","labels":{"mul":{"language":"mul","value":"8A03.14"},"pt-br":{"language":"pt-br","value":"Ataxia epis\u00f3dica heredit\u00e1ria"},"en":{"language":"en","value":"Hereditary episodic ataxia"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Transtornos autoss\u00f4micos dominantes associados a epis\u00f3dios intermitentes de disfun\u00e7\u00e3o cerebelar, com funcionamento normal ou ataxia e nistagmo m\u00ednimos entre os epis\u00f3dios. Os dois subtipos principais incluem EA1 e EA2. EA1 \u00e9 causado por uma muta\u00e7\u00e3o na codifica\u00e7\u00e3o do gene KCNA1 e caracterizada por epis\u00f3dios desencadeados por exerc\u00edcio e mioquimia muscular. EA2 \u00e9 causado por uma muta\u00e7\u00e3o no gene CACNA1A e envolve ataques mais prolongados de ataxia (durando de horas a dias) e ataxia residual interictal com nistagmo."},"en":{"language":"en","value":"Autosomal dominant disorders associated with intermittent episodes of cerebellar dysfunction, with normal functioning or minimal ataxia and nystagmus between episodes. The two major subtypes include EA1 and EA2. EA1 is caused by a mutation of the KCNA1 gene coding and characterized by episodes triggered by exercise and muscle myokymia. EA2 is caused by a mutation in CACNA1A gene and involves more prolonged attacks of ataxia (lasting hours to days), and interictal residual ataxia with nystagmus."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"3bad5b32a49d30a5d1bd1a1e8f89fc50fe4c0e99","datavalue":{"value":"https://id.who.int/icd/entity/423095680","type":"string"},"datatype":"url"},"type":"statement","id":"Q41032$19AD7C2B-DB00-4FB0-852F-0D53CF958A1E","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"fd836c2c81cdd134ad853427a909baa711f890a2","datavalue":{"value":"CID11:8A03.14","type":"string"},"datatype":"string"},"type":"statement","id":"Q41032$D2CFBA95-EB0C-41CB-BB06-401022AD49BB","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"a3f3f6dd67987b73256f72b946a685dfcb66407b","datavalue":{"value":"dki-india-8A03.14","type":"string"},"datatype":"string"},"type":"statement","id":"Q41032$F817A6A7-AECD-4DD4-96EA-533B3DDA02D2","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q41032$CDBD3BA2-B5FA-48A6-BE85-DF9D59DA68FE","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q41032$4C39BC65-217E-48BA-8604-4F22F1E9FFF3","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q41032$BDF95D10-9EEE-42E7-86A4-EECD681C8B82","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"3f643971cfec16268e9f563a0091da0944ac4f8e","datavalue":{"value":{"entity-type":"item","numeric-id":16811,"id":"Q16811"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q41032$3ECFA139-4541-4FDF-B88B-E9791CF54764","rank":"normal"}]},"sitelinks":{}}}}