{"Name":"Infant epilepsy with migrant focal crisis","DiseaseID__c":"GARD:0002995","id":2995,"encodedName":"infant-epilepsy-with-migrant-focal-crisis","IsDeleted":false,"Disease_Name_Full__c":"Infant epilepsy with migrant focal crisis","Xref_IDs__c":"724274009; C4510564; MEDGEN:1390817; MONDO:0016026; ORPHA:1943","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016026","Disease_Description__c":"A rare disorder characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown.","GARD_Name__c":"Infant epilepsy with migrant focal crisis","GARD_Synonym__c":"early-onset progressive encephalopathy with migrant continuous myoclonus","Curated_Disease_Description_Source__c":"MONDO:0016026","Curated_Disease_Description__c":"An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1943","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016026","ORPHANET_ID__c":"ORPHA:1943","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía progresiva de inicio precoz con miclonías migratorias continuas","Spanish_Description_Source__c":"ORPHA:1943","Spanish_Description__c":"Es un síndrome poco frecuente de epilepsia infantil caracterizado por encefalopatía progresiva de inicio precoz con mioclono continuo migratorio. El mioclono focal continuo (que dura desde docenas de minutos hasta horas) se observa en los primeros meses de vida. Durante la progresión de la enfermedad, se producen crisis mioclónicas bilaterales prolongadas y crisis tónico-clónicas generalizadas y, finalmente, se observa encefalopatía progresiva con hipotonía y ataxia. Todos los pacientes presentaron atrofia cortical. No ha habido más descripciones en la literatura desde 1996.","Spanish_Disease_Name__c":"encefalopatía progresiva de inicio precoz con miclonías migratorias continuas","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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":"An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown.","Curated_Disease_Description_Source__c":"MONDO:0016026","GARD_Synonym__c":"early-onset progressive encephalopathy with migrant continuous myoclonus","Name":"Infant epilepsy with migrant focal crisis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1943"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724274009","Source__c":"C4510564; MONDO:0016026","Xref__c":"724274009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4510564","Source__c":"C4510564","Xref__c":"C4510564"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1390817","Source__c":"C4510564","Xref__c":"MEDGEN:1390817"},{"URL__c":"https://www.orpha.net/en/disease/detail/1943","Source__c":"C4510564; MONDO:0016026; ORPHA:1943","Xref__c":"ORPHA:1943"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016026","Source__c":"GARD:0002995","Xref__c":"MONDO:0016026"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["early-onset progressive encephalopathy with migrant continuous myoclonus"]}