{"orpha":79137,"name":"Generalized epilepsy-paroxysmal dyskinesia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GEPD"],"definition":"Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the <i>KCNMA1</i> gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79137/","orphanet_url":"https://www.orpha.net/en/disease/detail/79137","names":{"fr":{"name":"Syndrome d'épilepsie généralisée-dyskinésie paroxystique","definition":"Le syndrome d'épilepsie généralisée-dyskinésie paroxystique est caractérisé par l'association d'une dyskinésie paroxystique et d'une épilepsie généralisée (généralement des absences ou des crises généralisées tonico-cloniques) présentes chez le même individu ou la même famille. La prévalence est inconnue. L'analyse de l'une des familles atteintes a permis l'identification d'une mutation en cause dans le gène syndrome est associé à des mutations de l'ADN mitochondrial dans le gène the <i>KCNMA1</i> (chromosome 10q22), codant pour la sous-unité alpha du canal BK. Le mode de transmission est autosomique dominant."},"de":{"name":"Generalisierte Epilepsie-paroxysmale Dyskinesie-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch das gemeinsame Auftreten von paroxysmaler Dyskinesie und generalisierter Epilepsie (in der Regel Absencen oder generalisierte tonisch-klonische Krämpfe) beim gleichen Individuum oder in der gleichen Familie."},"es":{"name":"Síndrome de epilepsia generalizada-discinesia paroxística","synonyms":["GEPD"],"definition":"Es un síndrome caracterizado por la asociación de epilepsia generalizada (normalmente crisis de ausencia o tónico-clónicas generalizadas) y discinesia paroxística en el mismo individuo o familia. La prevalencia es desconocida. El estudio de una de las familias condujo a la identificación de una mutación causal en el gen <i>KCNMA1</i> (cromosoma 10q22), que codifica la subunidad alfa del canal BK. La herencia es autosómica dominante."},"it":{"name":"Epilessia generalizzata - discinesia parossistica","synonyms":["GEPD"]},"nl":{"name":"Gegeneraliseerde epilepsie - paroxysmale dyskinesie-syndroom","synonyms":["GEPD"],"definition":"Gegeneraliseerde epilepsie - paroxysmale dyskinesie-syndroom wordt gekenmerkt door de associatie van paroxysmale dyskinesie and gegeneraliseerde epilepsie (meestal absence of gegeneraliseerde tonisch-clonische insulten) bij eenzelfde individu of familie. De prevalentie is niet gekend. Analyse bij een van de gerapporteerde families heeft geleid tot de identificatie van een causale mutatie in het gen <i>KCNMA1</i> (chromosoom 10q22), dat codeert voor de alfa-subeenheid van BK-kanaal. Overerving gebeurt autosomaal dominant."},"pt":{"name":"Epilepsia generalizada - discinesia paroxística","synonyms":["EGDP"]},"pl":{"name":"Padaczka uogólniona - dyskinezja napadowa","synonyms":["GEPD"]},"cs":{"name":"Syndrom zahrnující generalizovanou epilepsii a paroxyzmální dyskinezi","synonyms":["GEPD"]},"uk":{"name":"Синдром генералізованої епілепсії-пароксизмальної дискінезії","synonyms":["GEPD"],"definition":"Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the <i>KCNMA1</i> gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant."},"zh":{"name":"全身性癫痫-阵发性运动障碍综合征","synonyms":["GEPD"]},"tr":{"name":"Jeneralize epilepsi-paroksismal diskinezi sendromu","synonyms":["GEPD"]}},"xrefs":[{"source":"OMIM","code":"609446","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"784683256"},{"source":"MONDO","code":"0012276","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563719","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836173","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98259,"name":"Childhood-onset epilepsy syndrome","classifications":[156,181]},{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]}],"children":[],"genes":[{"symbol":"KCNMA1","name":"potassium calcium-activated channel subfamily M alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15937479[PMID]","hgnc":"6284","ensembl":"ENSG00000156113","omim":"600150","loci":["10q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"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":"2018-04-23","source":"15937479[PMID]_12366739[PMID]_26195193[PMID]_11520321[PMID]","terms":[{"hpo":"HP:0010849","label":"EEG with spike-wave complexes (>3.5 Hz)","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007166","label":"Paroxysmal dyskinesia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null}]}}