{"Name":"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression","DiseaseID__c":"GARD:0021619","id":21619,"encodedName":"infantile-onset-mesial-temporal-lobe-epilepsy-with-severe-cognitive-regression","IsDeleted":false,"Disease_Name_Full__c":"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression","Xref_IDs__c":"773421009; C4750853; MEDGEN:1654958; MONDO:0018314; ORPHA:391316","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018314","Disease_Description__c":"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.","GARD_Name__c":"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0018314","Curated_Disease_Description__c":"A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:391316","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018314","ORPHANET_ID__c":"ORPHA:391316","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia del lóbulo temporal mesial de inicio en el lactante con regresión cognitiva grave","Spanish_Description_Source__c":"ORPHA:391316","Spanish_Description__c":"Es una enfermedad monogénica poco frecuente con crisis epilépticas focales del lóbulo temporal mesial, farmacorresistentes, que comienzan en la lactancia. Se manifiesta por falta de reactividad, hipertonía y automatismos junto con regresión cognitiva poco después del inicio de las crisis, lo que conduce a discapacidad intelectual grave con anomalías conductuales.","Spanish_Disease_Name__c":"epilepsia del lóbulo temporal mesial de inicio en el lactante con regresión cognitiva grave","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":"A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.","Curated_Disease_Description_Source__c":"MONDO:0018314","Name":"Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression","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":"Infancy","Provided_By__c":"ORPHA:391316"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:391316"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4750853","Source__c":"C4750853","Xref__c":"C4750853"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1654958","Source__c":"C4750853","Xref__c":"MEDGEN:1654958"},{"URL__c":"https://www.orpha.net/en/disease/detail/391316","Source__c":"C4750853; MONDO:0018314; ORPHA:391316","Xref__c":"ORPHA:391316"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018314","Source__c":"GARD:0021619","Xref__c":"MONDO:0018314"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773421009","Source__c":"C4750853","Xref__c":"773421009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TNK2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":[""]}