{"Name":"Infantile convulsions and choreoathetosis","DiseaseID__c":"GARD:0008553","id":8553,"encodedName":"infantile-convulsions-and-choreoathetosis","IsDeleted":false,"Disease_Name_Full__c":"Infantile convulsions and choreoathetosis","Xref_IDs__c":"715534008; C126650; C1865926; C535522; MEDGEN:356123; MONDO:0011178; OMIM:602066","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":0,"Description_Source__c":"MONDO:0011178","Disease_Description__c":"Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.","GARD_Name__c":"Infantile convulsions and choreoathetosis","GARD_Synonym__c":"icca; icca syndrome; infantile convulsion and choreoathetosis syndrome; paroxysmal kinesigenic dyskinesia and infantile convulsion; paroxysmal kinesigenic dyskinesia and infantile convulsions; paroxysmal kinesigenic dyskinesia with infantile convulsions; pkd/ic","Curated_Disease_Description_Source__c":"MONDO:0011178","Curated_Disease_Description__c":"A neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:31709","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011178","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:31709","Spanish_Description__c":"El síndrome de convulsiones infantiles y coreoatetosis paroxística (ICCA) es una enfermedad neurológica caracterizada por convulsiones durante el primer año de vida (epilepsia infantil familiar benigna; consulte este término) y ataques discinéticos coreoatetósicos durante la infancia o adolescencia.","Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.","Curated_Disease_Description_Source__c":"MONDO:0011178","GARD_Synonym__c":"icca; icca syndrome; infantile convulsion and choreoathetosis syndrome; paroxysmal kinesigenic dyskinesia and infantile convulsion; paroxysmal kinesigenic dyskinesia and infantile convulsions; paroxysmal kinesigenic dyskinesia with infantile convulsions; pkd/ic","Name":"Infantile convulsions and choreoathetosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.org.uk/"},{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1865926"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008553","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK475803","Source__c":"Gene Review","Xref__c":"NBK475803"},{"URL__c":"https://www.omim.org/entry/602066","Source__c":"C1865926; MONDO:0011178","Xref__c":"OMIM:602066"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715534008","Source__c":"C1865926; MONDO:0011178","Xref__c":"715534008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535522","Source__c":"MONDO:0011178","Xref__c":"C535522"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865926","Source__c":"C1865926","Xref__c":"C1865926"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356123","Source__c":"C1865926","Xref__c":"MEDGEN:356123"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C126650","Source__c":"C1865926; MONDO:0011178","Xref__c":"C126650"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011178","Source__c":"GARD:0008553","Xref__c":"MONDO:0011178"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRRT2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prrt2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:602066","Feature__r":{"HPO_Description__c":"Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002372","HPO_Name__c":"Normal interictal EEG","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"OMIM:602066","Feature__r":{"HPO_Description__c":"A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007359","HPO_Synonym__c":"Focal onset seizure; Focal seizure; Focal seizures; Focal-onset seizures; Partial seizure; Partial seizures; Seizure affecting one half of brain","HPO_Name__c":"Focal-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602066","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal sensory seizure is a type seizure beginning with a subjective sensation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011157","HPO_Synonym__c":"Focal sensory seizures; Partial sensory seizure; Sensory aura","HPO_Name__c":"Focal sensory seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602066","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007098","HPO_Synonym__c":"Choreoathetosis, episodic; Choreoathetosis, intermittent","HPO_Name__c":"Paroxysmal choreoathetosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602066","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002268","HPO_Synonym__c":"Episodic dystonia","HPO_Name__c":"Paroxysmal dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602066","Feature__r":{"HPO_Description__c":"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002197","HPO_Synonym__c":"Generalized onset seizure; Generalized seizures; Generalized-onset seizures; Primary generalized seizure","HPO_Name__c":"Generalized-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602066","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infantile spasms represent a subset of \\\"epileptic spasms\\\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012469","HPO_Name__c":"Infantile spasms","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Epilepsy"],"Specialist":["Epilepsy"]},"synonyms":["icca"," icca syndrome"," infantile convulsion and choreoathetosis syndrome"," paroxysmal kinesigenic dyskinesia and infantile convulsion"," paroxysmal kinesigenic dyskinesia and infantile convulsions"," paroxysmal kinesigenic dyskinesia with infantile convulsions"," pkd/ic"]}