{"Name":"Epilepsy, familial focal, with variable foci 1","DiseaseID__c":"GARD:0018202","id":18202,"encodedName":"epilepsy-familial-focal-with-variable-foci-1","IsDeleted":false,"Disease_Name_Full__c":"Epilepsy, familial focal, with variable foci 1","Xref_IDs__c":"C161005; C4551983; DOID:0081421; MEDGEN:1641798; MONDO:0024556; OMIM:604364","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:0024556","Disease_Description__c":"Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.","GARD_Name__c":"Epilepsy, familial focal, with variable foci 1","GARD_Synonym__c":"depdc5 epilepsy, familial focal, with variable foci; depdc5-related epilepsy; epilepsy, familial focal, with variable foci caused by mutation in depdc5; ffevf1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Familial focal epilepsy with variable foci 1 (FFEVF1) is a type of epilepsy that runs in families. This form of epilepsy causes seizures that start in different parts of the brain. People with FFEVF1 often have auras or automatisms during seizures, meaning they may have subjective sensations and experiences or display involuntary repetitive movements. Others have seizures during sleep. Seizures often begin in one area of the brain and spread to other areas. Some people with this condition have abnormal brain waves, intellectual disability, or autism spectrum disorders. Seizures usually start in the first or second decades of life, but they can also occur later. Not everyone in a family with FFEVF1 will have the same symptoms. Some patients have been found to have subtle or clear signs of differences in the cells or structures of the area of the brain known as the cortex. These differences are called focal cortical dysplasia (FCD). FFEVF1 is caused by mutations in the DEPDC5 gene. It is inherited in an autosomal dominant pattern, meaning 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:604364","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0024556","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":"Familial focal epilepsy with variable foci 1 (FFEVF1) is a type of epilepsy that runs in families. This form of epilepsy causes seizures that start in different parts of the brain. People with FFEVF1 often have auras or automatisms during seizures, meaning they may have subjective sensations and experiences or display involuntary repetitive movements. Others have seizures during sleep. Seizures often begin in one area of the brain and spread to other areas. Some people with this condition have abnormal brain waves, intellectual disability, or autism spectrum disorders. Seizures usually start in the first or second decades of life, but they can also occur later. Not everyone in a family with FFEVF1 will have the same symptoms. Some patients have been found to have subtle or clear signs of differences in the cells or structures of the area of the brain known as the cortex. These differences are called focal cortical dysplasia (FCD). FFEVF1 is caused by mutations in the DEPDC5 gene. It is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"depdc5 epilepsy, familial focal, with variable foci; depdc5-related epilepsy; epilepsy, familial focal, with variable foci caused by mutation in depdc5; ffevf1","Name":"Epilepsy, familial focal, with variable foci 1","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/NBK385626","Source__c":"Gene Review","Xref__c":"NBK385626"},{"URL__c":"https://www.omim.org/entry/604364","Source__c":"C4551983; MONDO:0024556","Xref__c":"OMIM:604364"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081421","Source__c":"MONDO:0024556","Xref__c":"DOID:0081421"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C161005","Source__c":"C4551983; MONDO:0024556","Xref__c":"C161005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1641798","Source__c":"C4551983","Xref__c":"MEDGEN:1641798"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551983","Source__c":"C4551983","Xref__c":"C4551983"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0024556","Source__c":"GARD:0018202","Xref__c":"MONDO:0024556"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DEPDC5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/depdc5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:604364","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Seizures that occur while the affected individual is sleeping.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031951","HPO_Synonym__c":"Sleep seizures","HPO_Name__c":"Nocturnal seizures","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604364","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032051","HPO_Name__c":"Focal cortical dysplasia type II","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604364","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000729","HPO_Synonym__c":"ASD; Pervasive developmental disorder","HPO_Name__c":"Autistic behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604364","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of focal cortical dysplasia that is characterized by abnormal cortical layering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032047","HPO_Name__c":"Focal cortical dysplasia type I","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604364","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032052","HPO_Name__c":"Focal cortical dysplasia type IIa","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604364","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604364","Feature__r":{"HPO_Description__c":"A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032046","HPO_Name__c":"Focal cortical dysplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604364","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604364","Feature__r":{"HPO_Description__c":"Enlargement of all or parts of one cerebral hemisphere.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007206","HPO_Name__c":"Hemimegalencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Epilepsy"],"Specialist":["Epilepsy"]},"synonyms":["depdc5 epilepsy, familial focal, with variable foci"," depdc5-related epilepsy"," epilepsy, familial focal, with variable foci caused by mutation in depdc5"," ffevf1"]}