{"Name":"Mesial temporal lobe epilepsy with hippocampal sclerosis","DiseaseID__c":"GARD:0019684","id":19684,"encodedName":"mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis","IsDeleted":false,"Disease_Name_Full__c":"Mesial temporal lobe epilepsy with hippocampal sclerosis","Xref_IDs__c":"770643005; C4749367; MEDGEN:1659013; MONDO:0020476; ORPHA:99701","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0020476","Disease_Description__c":"Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.","GARD_Name__c":"Mesial temporal lobe epilepsy with hippocampal sclerosis","GARD_Synonym__c":"hippocampal sclerosis-related mesial temporal lobe epilepsy; hs-mtle; mtle-hs; mtle-hs - mesial temporal lobe epilepsy with hippocampal sclerosis","Curated_Disease_Description_Source__c":"MONDO:0020476","Curated_Disease_Description__c":"Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:99701","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020476","ORPHANET_ID__c":"ORPHA:99701","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia del lóbulo temporal mesial con esclerosis del hipocampo","Spanish_Description_Source__c":"ORPHA:99701","Spanish_Description__c":"Es un síndrome de epilepsia poco frecuente definido por crisis originadas en las áreas límbicas del lóbulo temporal mesial, particularmente en el hipocampo, amígdala y giro parahipocampal y sus conexiones; y esclerosis hipocampal, generalmente unilateral o asimétrica. Habitualmente se asocia con un acontecimiento desencadenante inicial, tal como crisis febriles, hipoxia, infección intracraneal o traumatismo craneal, que ocurre con mayor frecuencia en los primeros cinco años de vida, seguido de un período latente sin crisis. Las crisis típicas constan de un aura característica de una sensación epigástrica ascendente asociada a trastornos emocionales, alucinaciones y síntomas autónomos (pupilas dilatadas, palpitaciones), deterioro progresivo de la conciencia, automatismos oroalimentarios (chasquido de labios, masticación, chupeteo, rechinamiento de dientes), parada conductual, desviación de la cabeza, posturas distónicas, automatismos manuales y verbales. Las crisis se siguen de disfunción postictal. En un inicio, las crisis son fácilmente controladas con fármacos antiepilépticos, haciéndose refractarias con frecuencia posteriormente y asociándose a cambios progresivos de conducta y déficits de memoria.","Spanish_Disease_Name__c":"epilepsia del lóbulo temporal mesial con esclerosis del hipocampo","Spanish_GARD_Synonym__c":"epilepsia del lóbulo temporal mesial asociada a esclerosis del hipocampo; hs-mtle; mtle-hs","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":"Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.","Curated_Disease_Description_Source__c":"MONDO:0020476","GARD_Synonym__c":"hippocampal sclerosis-related mesial temporal lobe epilepsy; hs-mtle; mtle-hs; mtle-hs - mesial temporal lobe epilepsy with hippocampal sclerosis","Name":"Mesial temporal lobe epilepsy with hippocampal sclerosis","estimateUsa":""}],"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":"Adult","Provided_By__c":"ORPHA:99701"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:99701"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:99701"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:99701"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:99701"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1659013","Source__c":"C4749367","Xref__c":"MEDGEN:1659013"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749367","Source__c":"C4749367","Xref__c":"C4749367"},{"URL__c":"https://www.orpha.net/en/disease/detail/99701","Source__c":"C4749367; MONDO:0020476; ORPHA:99701","Xref__c":"ORPHA:99701"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020476","Source__c":"GARD:0019684","Xref__c":"MONDO:0020476"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770643005","Source__c":"C4749367","Xref__c":"770643005"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["hippocampal sclerosis-related mesial temporal lobe epilepsy"," hs-mtle"," mtle-hs"," mtle-hs - mesial temporal lobe epilepsy with hippocampal sclerosis"]}