{"Name":"Self-limited childhood occipital epilepsy","DiseaseID__c":"GARD:0002170","id":2170,"encodedName":"self-limited-childhood-occipital-epilepsy","IsDeleted":false,"Disease_Name_Full__c":"Self-limited childhood occipital epilepsy","Xref_IDs__c":"C1851549; MEDGEN:377052; MONDO:0007558; OMIM:132090; ORPHA:25968","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007558","Disease_Description__c":"Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.","GARD_Name__c":"Self-limited childhood occipital epilepsy","GARD_Synonym__c":"benign occipital epilepsy; benign occipital lobe epilepsy","Curated_Disease_Description_Source__c":"MONDO:0007558","Curated_Disease_Description__c":"A rare childhood-onset epilepsy syndrome characterized by photic-induced focal occipital seizures in individuals with normal development. It typically begins in childhood or adolescence. Seizures are often photic-induced and involve visual auras (such as colored spots or lights), followed by involuntary deviation of the head and without loss of awareness. The severity and frequency of the seizures varies among affected individuals. There is no major impact on developmental skills.","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:25968","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007558","ORPHANET_ID__c":"ORPHA:25968","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia occipital infantil autolimitada","Spanish_Description_Source__c":"ORPHA:25968","Spanish_Description__c":"Es un trastorno neurológico genético poco frecuente caracterizado por crisis visuales y paroxismos epileptiformes occipitales reactivos a la apertura ocular que se presentan desde la lactancia hasta la adolescencia media. Los vómitos, desviación tónica de la mirada y deterioro de la conciencia se asocian típicamente al tipo Panayiotopoulos, mientras que las alucinaciones visuales, ceguera ictal y cefalea post-ictal se observan comúnmente en el tipo Gastaut. Los hallazgos electroencefalográficos son similares en ambos tipos e incluyen complejos punta-onda bilaterales y sincronos de alto voltaje con una actividad normal de fondo localizada predominantemente en los lóbulos occipitales.","Spanish_Disease_Name__c":"epilepsia occipital infantil autolimitada","Spanish_GARD_Synonym__c":"epilepsia occipital benigna","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 childhood-onset epilepsy syndrome characterized by photic-induced focal occipital seizures in individuals with normal development. It typically begins in childhood or adolescence. Seizures are often photic-induced and involve visual auras (such as colored spots or lights), followed by involuntary deviation of the head and without loss of awareness. The severity and frequency of the seizures varies among affected individuals. There is no major impact on developmental skills.","Curated_Disease_Description_Source__c":"MONDO:0007558","GARD_Synonym__c":"benign occipital epilepsy; benign occipital lobe epilepsy","Name":"Self-limited childhood occipital epilepsy","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":"Adolescent","Provided_By__c":"ORPHA:25968"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:25968"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:25968"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/132090","Source__c":"C1851549; MONDO:0007558; ORPHA:25968","Xref__c":"OMIM:132090"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=377052","Source__c":"C1851549","Xref__c":"MEDGEN:377052"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1851549","Source__c":"C1851549","Xref__c":"C1851549"},{"URL__c":"https://www.orpha.net/en/disease/detail/25968","Source__c":"C1851549; MONDO:0007558; ORPHA:25968","Xref__c":"ORPHA:25968"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770623004","Source__c":"C1851549","Xref__c":"770623004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007558","Source__c":"GARD:0002170","Xref__c":"MONDO:0007558"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:25968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:25968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025518","HPO_Name__c":"Visual gaze preference","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:25968","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002384","HPO_Synonym__c":"Complex focal seizures; Complex partial seizure; Complex partial seizures; Dyscognitive seizures; Focal dyscognitive seizure; Focal impaired awareness seizures; Focal seizure with impairment of awareness; Focal seizure with loss of awareness; Focal seizures with impairment of consciousness or awareness; Localised dyscognitive seizure; Localised seizure with impaired awareness; Localised seizure with loss of awareness; Localized dyscognitive seizure; Localized seizure with impaired awareness; Localized seizure with loss of awareness; Partial dyscognitive seizure; Partial seizure with impairment of awareness; Partial seizure with loss of awareness","HPO_Name__c":"Focal impaired awareness seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:25968","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012011","HPO_Name__c":"EEG with occipital focal spike waves","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:25968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual perception in the absence of a visual stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002367","HPO_Synonym__c":"Visual hallucinations","HPO_Name__c":"Visual hallucination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:25968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["benign occipital epilepsy"," benign occipital lobe epilepsy"]}