{"Name":"Seizures, benign familial neonatal, 2","DiseaseID__c":"GARD:0015054","id":15054,"encodedName":"seizures-benign-familial-neonatal-2","IsDeleted":false,"Disease_Name_Full__c":"Seizures, benign familial neonatal, 2","Xref_IDs__c":"C1852581; MEDGEN:377707; MONDO:0007366; OMIM:121201","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007366","Disease_Description__c":"Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.","GARD_Name__c":"Seizures, benign familial neonatal, 2","GARD_Synonym__c":"benign neonatal epilepsy 2; benign neonatal seizures caused by mutation in kcnq3; convulsions, benign familial neonatal, 2; kcnq3 benign neonatal seizures; kcnq3-related benign familial neonatal epilepsy; seizures, benign familial neonatal, type 2; seizures, benign neonatal, 2","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Benign familial neonatal seizures 2 is a rare genetic condition. It is characterized by unprovoked seizures in the first few days or months of life. These seizures can be clonic or tonic-clonic. They typically last for about a minute and may occur several times a day. The seizures are usually responsive to medication. Almost all patients have full remission within the first months of life. In some rare cases, a few seizures may occur later in childhood. Tests for the brain's electrical activity, brain structure, and development are usually normal. Seizures, benign familial neonatal, 2 is caused by changes in the KCNQ3 gene. This condition follows an autosomal dominant pattern of inheritance. This means that a single copy of the mutated gene is sufficient to cause the disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:121201","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007366","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"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":"Benign familial neonatal seizures 2 is a rare genetic condition. It is characterized by unprovoked seizures in the first few days or months of life. These seizures can be clonic or tonic-clonic. They typically last for about a minute and may occur several times a day. The seizures are usually responsive to medication. Almost all patients have full remission within the first months of life. In some rare cases, a few seizures may occur later in childhood. Tests for the brain's electrical activity, brain structure, and development are usually normal. Seizures, benign familial neonatal, 2 is caused by changes in the KCNQ3 gene. This condition follows an autosomal dominant pattern of inheritance. This means that a single copy of the mutated gene is sufficient to cause the disorder.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"benign neonatal epilepsy 2; benign neonatal seizures caused by mutation in kcnq3; convulsions, benign familial neonatal, 2; kcnq3 benign neonatal seizures; kcnq3-related benign familial neonatal epilepsy; seizures, benign familial neonatal, type 2; seizures, benign neonatal, 2","Name":"Seizures, benign familial neonatal, 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK201978","Source__c":"Gene Review","Xref__c":"NBK201978"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=377707","Source__c":"C1852581","Xref__c":"MEDGEN:377707"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852581","Source__c":"C1852581","Xref__c":"C1852581"},{"URL__c":"https://www.omim.org/entry/121201","Source__c":"C1852581; MONDO:0007366","Xref__c":"OMIM:121201"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007366","Source__c":"GARD:0015054","Xref__c":"MONDO:0007366"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNQ3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnq3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:121201","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002069","HPO_Synonym__c":"Bilateral convulsive seizures; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions","HPO_Name__c":"Bilateral tonic-clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:121201","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002266","HPO_Synonym__c":"Focal clonic seizures; Localized clonic seizure; Partial clonic seizure; Segmental clonic seizure","HPO_Name__c":"Focal clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Epilepsy"],"Specialist":["Epilepsy"]},"synonyms":["benign neonatal epilepsy 2"," benign neonatal seizures caused by mutation in kcnq3"," convulsions, benign familial neonatal, 2"," kcnq3 benign neonatal seizures"," kcnq3-related benign familial neonatal epilepsy"," seizures, benign familial neonatal, type 2"," seizures, benign neonatal, 2"]}