{"orpha":1945,"name":"Self-limited epilepsy with centrotemporal spikes","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BECRS","BECTS","BRE","Benign epilepsy of childhood with centrotemporal spikes","Benign familial epilepsy of childhood with rolandic spikes","Benign rolandic epilepsy","Centrotemporal epilepsy","Rolandic epilepsy","SeLECTS"],"definition":"A rare focal childhood epilepsy characterized by seizures involving unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome. Self-Limited Epilepsy with CentroTemporal Spikes (SeLECTS) was formerly known as benign Rolandic epilepsy or benign epilepsy with centrotemporal spikes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1945/","orphanet_url":"https://www.orpha.net/en/disease/detail/1945","names":{"fr":{"name":"Epilepsie autolimitée avec pointes centro-temporales","synonyms":["Epilepsie partielle bénigne infantile","Epilepsie partielle bénigne à pointes rolandiques","Epilepsie partielle bénigne à paroxysmes rolandiques","Epilepsie partielle bénigne à pointes centro-temporales","Epilepsie partielle bénigne à paroxysmes centro-temporaux","Epilepsie familiale bénigne de l'enfant à pointes rolandiques","EPCT","EPR","ERB","SeLECTS","Epilepsie rolandique bénigne","Epilepsie partielle rolandique"],"definition":"Épilepsie focale de l'enfance rare caractérisée par des crises s'accompagnant de symptômes sensorimoteurs hémifaciaux, et par un électroencéphalogramme (EEG) mettant en évidence des ondes aiguës diphasiques dans la région rolandique. Il s'agit d'une épilepsie en lien avec l'âge évoluant de manière très favorable. L'épilepsie autolimitée avec pointes centro-temporales (SeLECTS pour Self-Limited Epilepsy with CentroTemporal Spikes) était anciennement connue sous le nom d'épilepsie rolandique bénigne ou d'épilepsie bénigne à pointes centro-temporales."},"de":{"name":"Selbstlimitierende Epilepsie mit zentrotemporalen Spikes","synonyms":["BECRS","BECTS","BRE","Benigne Rolando-Epilepsie","Benigne kindliche Epilepsie mit zentrotemporalen Spikes","Epilepsie, zentrotemporale","SeLECTS"],"definition":"Eine seltene fokale Epilepsie im Kindesalter, die durch Anfälle mit einseitigen sensorisch-motorischen Symptomen im Gesicht gekennzeichnet ist und bei der das Elektroenzephalogramm (EEG) scharfe biphasische Wellen über der Rolandischen Region zeigt. Es handelt sich um eine altersbedingte Epilepsie mit ausgezeichnetem Verlauf. Die selbstlimitierende Epilepsie mit zentrotemporalen Spikes (SeLECTS) war früher als benigne Rolandische Epilepsie oder benigne Epilepsie mit zentrotemporalen Spikes bekannt."},"es":{"name":"Epilepsia autolimitada con puntas centrotemporales","synonyms":["SeLECTS","Epilepsia benigna de la infancia con puntas centrotemporales","Epilepsia benigna familiar de la infancia con puntas rolándicas","Epilepsia centrotemporal","Epilepsia rolándica","Epilepsia rolándica benigna"],"definition":"Es una epilepsia focal de la infancia poco frecuente caracterizada por crisis consistentes en síntomas sensitivo-motores faciales unilaterales, con un electroencefalograma (EEG) que muestra ondas bifásicas agudas en la región rolándica. Se trata de una epilepsia edad-dependiente de buen pronóstico. La epilepsia autolimitada con puntas centrotemporales (SeLECTS, por sus siglas en inglés) se conocía anteriormente como epilepsia rolándica benigna o epilepsia benigna con puntas centrotemporales."},"it":{"name":"Epilessia autolimitante con punte centrotemporali","synonyms":["SeLECTS","Epilessia rolandica","BECRS","BECTS","BRE","Epilessia benigna dell'infanzia con punte centrotemporali","Epilessia benigna familiare dell'infanzia con punte rolandiche","Epilessia centrotemporale","Epilessia rolandica benigna"]},"nl":{"name":"Zelflimiterende epilepsie met centrotemporale pieken","synonyms":["BECRS","BECTS","BRE","Centrotemporale epilepsie","Goedaardige epilepsie in de kindertijd met centrotemporale pieken","Goedaardige familiale epilepsie in de kindertijd met rolandische pieken","Goedaardige rolandische epilepsie","Rolandische epilepsie","SeLECTS"],"definition":"Een zeldzame focale epilepsie in de kindertijd, gekenmerkt door insulten met unilaterale faciale sensorische en motorische symptomen, en een elektro-encefalogram (EEG) dat scherpe bifasische pieken vertoont in het rolandische gebied. Het is een leeftijdsgebonden epilepsie met een uitstekende uitkomst. Zelflimiterende epilepsy met centrotemporale pieken (SeLECTS) was eerder gekend als goedaardige rolandische epilepsie of goedaardige epilepsie met centrotemporale pieken."},"pt":{"name":"Epilepsia auto-limitada com picos centro-temporais","synonyms":["SeLECTS","BECRS","BECTS","BRE","Epilepsia benigna da infância com picos centro-temporais","Epilepsia benigna rolândica","Epilepsia centro-temporal","Epilepsia familiar benigna da infância com picos rolândicos","Epilepsia rolândica"]},"pl":{"name":"Padaczka rolandyczna","synonyms":["BECRS","BECTS","BRE","Łagodna padaczka dziecięca z iglicami w okolicy centralnoskroniowej","Łagodna padaczka rolandyczna","Łagodna rodzinna padaczka dziecięca z iglicami rolandycznymi","Padaczka centralno-skroniowa"]},"cs":{"name":"Rolandická epilepsie","synonyms":["BECRS","BECTS","BRE","Benigní rolandická epilepsie","Centrotemporální epilepsie","Benigní epilepsie v dětství s centrotemporálními hroty","Benigní epilepsie v dětství s rolandickými hroty"]},"uk":{"name":"Роландична епілепсія","synonyms":["BECRS","BECTS","Доброякісна епілепсія дитячого віку з центротемпоральними спалахами","Доброякісна сімейна епілепсія дитячого віку з роландичними нападами","Доброякісна роландична епілепсія","BRE","Центротемпоральна епілепсія"],"definition":"Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome."},"zh":{"name":"运动性癫痫","synonyms":["良性家族性儿童癫痫伴运动区棘波"]},"tr":{"name":"Rolandik epilepsi","synonyms":["BRE","BECRS","BECTS","Sentrotemporal epilepsi","Selim rolandik epilepsi","Sentrotemporal sivri uçlu selim çocukluk çağı epilepsisi","Rolandik sivri uçlu selim ailesel çocukluk çağı epilepsisi"]}},"xrefs":[{"source":"OMIM","code":"117100","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"245570","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1046279423"},{"source":"MONDO","code":"0007295","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D019305","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0376532","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10287","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070530","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98749,"name":"Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect","classifications":[156]},{"orpha":726812,"name":"Self limited focal childhood epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SRPX2","name":"sushi repeat containing protein X-linked 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"30668","ensembl":"ENSG00000102359","omim":"300642","loci":["Xq22.1"]},{"symbol":"GABRG2","name":"gamma-aminobutyric acid type A receptor subunit gamma2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25726841[PMID]","hgnc":"4087","ensembl":"ENSG00000113327","omim":"137164","loci":["5q34"]},{"symbol":"GRIN2A","name":"glutamate ionotropic receptor NMDA type subunit 2A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23933819[PMID]","hgnc":"4585","ensembl":"ENSG00000183454","omim":"138253","loci":["16p13.2"]}],"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"},{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Sweden","status":"Validated","source":"16638642[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-31","source":"30219586[PMID]_28801973[PMID]_28351718[PMID]_27780283[PMID]_31645314[PMID]","terms":[{"hpo":"HP:0012557","label":"EEG with centrotemporal focal spike waves","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007332","label":"Focal hemifacial clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025425","label":"Laryngospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007270","label":"Atypical absence seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001326","label":"EEG with irregular generalized spike and wave complexes","frequency":"Very rare (<4-1%)","criteria":null}]}}