{"orpha":289266,"name":"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289266/","orphanet_url":"https://www.orpha.net/en/disease/detail/289266","names":{"fr":{"name":"Encéphalopathie épileptique à début précoce et déficience intellectuelle liées à une mutation de GRIN2A","definition":"Un syndrome rare de déficit intellectuel et d'épilepsie caractérisé par un retard du développement global et un déficit intellectuel léger à profond, associés à de nombreux types de convulsions généralisées et focales habituellement incurables. L'électroencéphalogramme (EEG) révèle des anomalies variables, et l'imagerie par résonance magnétique (IRM) cérébrale révèle une perte bilatérale progressive de volume parenchymateux et un corps calleux fin."},"de":{"name":"Frühinfantile epileptische Enzephalopathie und Intelligenzminderung durch GRIN2A-Genmutation"},"es":{"name":"Encefalopatía epiléptica y discapacidad intelectual de inicio precoz por una mutación en el gen GRIN2A","definition":"Es un síndrome de discapacidad intelectual y epilepsia poco frecuente caracterizado por retraso global del desarrollo y discapacidad intelectual de leve a grave, crisis focales y generalizadas intratables de múltiples tipos, junto a hallazgos anómalos variables en el electroencefalograma. En imágenes de resonancia magnética cerebral se observa además una pérdida progresiva y bilateral de volumen parenquimatoso, así como adelgazamiento del cuerpo calloso."},"it":{"name":"Encefalopatia epilettica ad esordio precoce e disabilità intellettiva da mutazione di GRIN2A","definition":"L'encefalopatia epilettica ad esordio precoce e disabilità intellettiva da mutazione di GRIN2A è una malattia rara che associa disabilità intellettiva ed epilessia. È caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva da lieve a molto grave e crisi epilettiche focali e generalizzate di solito resistenti alla terapia, associate ad anomalie variabili dell'EEG. La RMN evidenzia la riduzione progressiva e bilaterale del volume parenchimale e l'assottigliamento del corpo calloso."},"nl":{"name":"Epileptische encefalopathie en intellectuele achterstand met vroege aanvang door GRIN2A-mutatie","definition":"Epileptische encefalopathie en intellectuele achterstand door GRIN2A-mutatie is een zeldzaam syndroom met intellectuele invaliditeit en epilepsie, en wordt gekarakteriseerd door algehele ontwikkelingsachterstand en milde tot totale intellectuele achterstand, meerdere types van meestal hardnekkige focale en gegeneraliseerde insulten met variabele abnormale bevindingen bij EEG, en bilateraal progressief parenchymaal volumeverlies van en dun corpus callosum bij MRI van de hersenen."},"pt":{"name":"Encefalopatia epilética de início precoce e perturbação do desenvolvimento intelectual por mutações em GRIN2A"},"pl":{"name":"Encefalopatia padaczkowa o wczesnym początku i niepełnosprawność intelektualna z powodu mutacji GRIN2A"},"cs":{"name":"Epileptická encefalopatie a mentální retardace s časným nástupem způsobená GRIN2A mutací"},"uk":{"name":"Рання епілептична енцефалопатія та розумова відсталість внаслідок мутації GRIN2A","definition":"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI."},"zh":{"name":"GRIN2A基因变异所致早发性癫痫性脑病和智力障碍","definition":"GRIN2A基因突变所致早发性癫痫性脑病和智力残疾是一种罕见的智力残疾和癫痫综合征，其特征是全面发育迟缓，轻度至极重度智力残疾，多种类型的顽固性局灶性和全面性癫痫发作，脑电图异常改变，脑部MRI呈双侧进行性脑实质体积减少和胼胝体变薄。"},"tr":{"name":"GRIN2A mutasyonuna bağlı erken-başlangıçlı epileptik ensefalopati ve zihinsel yetersizlik"}},"xrefs":[{"source":"OMIM","code":"245570","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1655554340"},{"source":"MONDO","code":"0017325","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749281","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98259,"name":"Childhood-onset epilepsy syndrome","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"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":"20890276[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"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-04","source":"24839611[PMID]_24504326[PMID]_20890276[PMID]","terms":[{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010844","label":"EEG with multifocal slow activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012736","label":"Profound global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012547","label":"Abnormal involuntary eye movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012447","label":"Abnormal myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","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:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012171","label":"Stereotypical hand wringing","frequency":"Occasional (29-5%)","criteria":null}]}}