{"Name":"Benign infantile focal epilepsy with midline spikes and waves during sleep","DiseaseID__c":"GARD:0020075","id":20075,"encodedName":"benign-infantile-focal-epilepsy-with-midline-spikes-and-waves-during-sleep","IsDeleted":false,"Disease_Name_Full__c":"Benign infantile focal epilepsy with midline spikes and wave during sleep","Xref_IDs__c":"C4749346; MEDGEN:1663004; MONDO:0015641; ORPHA:166308","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015641","Disease_Description__c":"Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.","GARD_Name__c":"Benign infantile focal epilepsy with midline spikes and waves during sleep","GARD_Synonym__c":"bimse; bimse - benign infantile focal epilepsy with midline spikes and waves during sleep","Curated_Disease_Description_Source__c":"MONDO:0015641","Curated_Disease_Description__c":"Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:166308","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015641","ORPHANET_ID__c":"ORPHA:166308","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia focal benigna del lactante con puntas y ondas en línea media durante el sueño","Spanish_Description_Source__c":"ORPHA:166308","Spanish_Description__c":"Es un síndrome de epilepsia infantil poco frecuente caracterizado por crisis parciales esporádicas con edad de inicio entre los 4 y los 30 meses. Se presentan con detención del movimiento, mirada fija, cianosis y menos frecuentemente automatismos y signos de lateralización, así como por hallazgos característicos en el EEG interictal durante el sueño consistentes en una punta seguida de una onda lenta con forma de campana en la región de la línea media.","Spanish_Disease_Name__c":"epilepsia focal benigna del lactante con puntas y ondas en línea media durante el sueño","Spanish_GARD_Synonym__c":"bimse","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":"Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.","Curated_Disease_Description_Source__c":"MONDO:0015641","GARD_Synonym__c":"bimse; bimse - benign infantile focal epilepsy with midline spikes and waves during sleep","Name":"Benign infantile focal epilepsy with midline spikes and wave during sleep","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:166308"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/166308","Source__c":"C4749346; MONDO:0015641; ORPHA:166308","Xref__c":"ORPHA:166308"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1663004","Source__c":"C4749346","Xref__c":"MEDGEN:1663004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749346","Source__c":"C4749346","Xref__c":"C4749346"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015641","Source__c":"GARD:0020075","Xref__c":"MONDO:0015641"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770622009","Source__c":"C4749346","Xref__c":"770622009"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["bimse"," bimse - benign infantile focal epilepsy with midline spikes and waves during sleep"]}