{"Name":"Benign partial epilepsy with secondarily generalized seizures in infancy","DiseaseID__c":"GARD:0020073","id":20073,"encodedName":"benign-partial-epilepsy-with-secondarily-generalized-seizures-in-infancy","IsDeleted":false,"Disease_Name_Full__c":"Benign partial epilepsy with secondarily generalized seizures in infancy","Xref_IDs__c":"C4749728; MEDGEN:1656339; MONDO:0015639","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015639","Disease_Description__c":"Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.","GARD_Name__c":"Benign partial epilepsy with secondarily generalized seizures in infancy","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0015639","Curated_Disease_Description__c":"Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:166302","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015639","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":"Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.","Curated_Disease_Description_Source__c":"MONDO:0015639","Name":"Benign partial epilepsy with secondarily generalized seizures in infancy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749728","Source__c":"C4749728","Xref__c":"C4749728"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1656339","Source__c":"C4749728","Xref__c":"MEDGEN:1656339"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015639","Source__c":"GARD:0020073","Xref__c":"MONDO:0015639"}],"tags":{"Account":["Epilepsy"],"Specialist":["Epilepsy"]},"synonyms":[""]}