{"Name":"Genetic developmental and epileptic encephalopathy","DiseaseID__c":"GARD:0009255","id":9255,"encodedName":"genetic-developmental-and-epileptic-encephalopathy","IsDeleted":false,"Disease_Name_Full__c":"Genetic developmental and epileptic encephalopathy","Xref_IDs__c":"423022845; C122814; CN379639; DOID:0112202; MEDGEN:1055657; MONDO:0100062; OMIMPS:308350","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0100062","Disease_Description__c":"A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.","GARD_Name__c":"Genetic developmental and epileptic encephalopathy","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"GARD:0009255","Curated_Disease_Description__c":"Early Infantile Epileptic Encephalopathy (EIEE) is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life in the form of epileptic seizures. Infants may have primarily tonic seizures (which cause stiffening of muscles of the body, generally those in the back, legs, and arms), but may also experience partial seizures, and rarely, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs). Most infants with the disorder show underdevelopment of part or all of the cerebral hemispheres or structural anomalies. Some cases are caused by metabolic disorders or by genetic changes in several different genes. The cause for many cases can't be determined.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:1934","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100062","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Early Infantile Epileptic Encephalopathy (EIEE) is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life in the form of epileptic seizures. Infants may have primarily tonic seizures (which cause stiffening of muscles of the body, generally those in the back, legs, and arms), but may also experience partial seizures, and rarely, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs). Most infants with the disorder show underdevelopment of part or all of the cerebral hemispheres or structural anomalies. Some cases are caused by metabolic disorders or by genetic changes in several different genes. The cause for many cases can't be determined.","Curated_Disease_Description_Source__c":"GARD:0009255","Name":"Genetic developmental and epileptic encephalopathy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SCN2A Australia","Website__c":"https://scn2aaustralia.org/"},{"Account_Name__c":"FamilieSCN2A Foundation","Website__c":"https://www.scn2a.org"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Liga Argentina contra la Epilepsia","Website__c":"https://www.lace.org.ar/"},{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"},{"Account_Name__c":"Aaron's Ohtahara","Website__c":"https://sites.google.com/a/ohtahara.org/ohtahara2/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0393706"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009255","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112202","Source__c":"MONDO:0100062","Xref__c":"DOID:0112202"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C122814","Source__c":"MONDO:0100062","Xref__c":"C122814"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS308350","Source__c":"MONDO:0100062","Xref__c":"OMIMPS:308350"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100062","Source__c":"GARD:0009255","Xref__c":"MONDO:0100062"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN379639","Source__c":"CN379639","Xref__c":"CN379639"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1055657","Source__c":"CN379639","Xref__c":"MEDGEN:1055657"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022845","Xref__c":"423022845"},{"URL__c":"https://www.fda.gov/media/186112/download?attachment"}],"tags":{"Account":["Epilepsy"],"Specialist":["Epilepsy","Neurodevelopmental disabilities"]},"synonyms":[""],"spanishId":13132,"spanishName":"encefalopatia-epileptica-infantil-temprana"}