{"Name":"Familial focal epilepsy with variable foci","DiseaseID__c":"GARD:0013295","id":13295,"encodedName":"familial-focal-epilepsy-with-variable-foci","IsDeleted":false,"Disease_Name_Full__c":"Familial focal epilepsy with variable foci","Xref_IDs__c":"764522009; C1858477; C565785; DOID:0081420; MEDGEN:348951; MONDO:0020310; OMIMPS:604364; ORPHA:98820","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0020310","Disease_Description__c":"Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.","GARD_Name__c":"Familial focal epilepsy with variable foci","GARD_Synonym__c":"epilepsy, familial focal, with variable foci; familial partial epilepsy with variable foci; ffevf; ffevf - familial focal epilepsy with variable foci; fpevf","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Familial focal epilepsy with variable foci (FFEVF) is an uncommon form of recurrent seizures (epilepsy) that runs in families. Seizures associated with FFEVF can begin at any time from infancy to adulthood. The seizures are described as focal or partial, which means they begin in one region of the brain and do not cause a loss of consciousness. In more than 70 percent of affected individuals, these seizures begin in one of two areas of the brain, either the temporal lobe or the frontal lobe. The region of the brain where the seizures start tends to stay the same over time. In rare instances, seizure activity that starts in one area spreads to affect the entire brain and causes a loss of consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures. Among family members with FFEVF, individuals may not have the same brain region affected (variable foci), meaning that one person's seizures may not begin in the same part of the brain as their affected relative. Some individuals with FFEVF also have a brain malformation called focal cortical dysplasia. Seizures in these individuals are typically not well-controlled with medication. Most people with FFEVF are intellectually normal, and there are no problems with their brain function between seizures. However, some people with FFEVF have developed psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are directly related to epilepsy in these individuals.","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:98820","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020310","ORPHANET_ID__c":"ORPHA:98820","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia focal familiar con focos variables","Spanish_Description_Source__c":"ORPHA:98820","Spanish_Description__c":"La epilepsia focal familiar con focos variables es un trastorno genético de epilepsia poco frecuente, caracterizado por una epilepsia focal lesional y no lesional autosómica dominante con penetrancia variable. Las crisis focales provienen de diferentes localizaciones corticales (temporal, frontal, centro-parietal, parietal, parieto-occipital, occipital) en diferentes miembros de una familia, pero en cada individuo permanece constante un solo foco durante toda la vida. El tipo de crisis (tónica, tónico-clónica o hipercinética) y la gravedad varía entre miembros de una misma familia con tendencia a disminuir (pero no desaparecer) durante la edad adulta. Muchos afectados presentan aura y automatismos durante las crisis diurnas, mientras que otros tienen crisis nocturnas. La mayoría de los individuos tienen inteligencia normal, pero se han descrito casos de afectados con discapacidad intelectual, trastorno del espectro autista y trastorno obsesivo-compulsivo.","Spanish_Disease_Name__c":"epilepsia focal familiar con focos variables","Spanish_GARD_Synonym__c":"epilepsia parcial familiar con focos variables; ffevf","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":"Familial focal epilepsy with variable foci (FFEVF) is an uncommon form of recurrent seizures (epilepsy) that runs in families. Seizures associated with FFEVF can begin at any time from infancy to adulthood. The seizures are described as focal or partial, which means they begin in one region of the brain and do not cause a loss of consciousness. In more than 70 percent of affected individuals, these seizures begin in one of two areas of the brain, either the temporal lobe or the frontal lobe. The region of the brain where the seizures start tends to stay the same over time. In rare instances, seizure activity that starts in one area spreads to affect the entire brain and causes a loss of consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures. Among family members with FFEVF, individuals may not have the same brain region affected (variable foci), meaning that one person's seizures may not begin in the same part of the brain as their affected relative. Some individuals with FFEVF also have a brain malformation called focal cortical dysplasia. Seizures in these individuals are typically not well-controlled with medication. Most people with FFEVF are intellectually normal, and there are no problems with their brain function between seizures. However, some people with FFEVF have developed psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are directly related to epilepsy in these individuals.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"epilepsy, familial focal, with variable foci; familial partial epilepsy with variable foci; ffevf; ffevf - familial focal epilepsy with variable foci; fpevf","Name":"Familial focal epilepsy with variable foci","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:98820"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98820"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98820"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98820"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013295","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565785","Source__c":"MONDO:0020310","Xref__c":"C565785"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858477","Source__c":"C1858477","Xref__c":"C1858477"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081420","Source__c":"MONDO:0020310","Xref__c":"DOID:0081420"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348951","Source__c":"C1858477","Xref__c":"MEDGEN:348951"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764522009","Source__c":"C1858477; MONDO:0020310","Xref__c":"764522009"},{"URL__c":"https://www.orpha.net/en/disease/detail/98820","Source__c":"C1858477; MONDO:0020310; ORPHA:98820","Xref__c":"ORPHA:98820"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS604364","Source__c":"MONDO:0020310","Xref__c":"OMIMPS:604364"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci","Source__c":"GARD:0013295","Xref__c":"https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020310","Source__c":"GARD:0013295","Xref__c":"MONDO:0020310"}],"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},{"GeneSymbol__c":"NPRL3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nprl3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NPRL2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nprl2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SCN3A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Uncommon (<1-4%)","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"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Occasional (5-29%)","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:98820","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:98820","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":"ORPHA:98820","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective feeling that an experience which is occurring for the first time has been experienced before.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012005","HPO_Synonym__c":"Deja vu","HPO_Name__c":"Deja vu aura","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:98820","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98820","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":"ORPHA:98820","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031284","HPO_Name__c":"Flushing","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Perception of sounds without auditory stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008765","HPO_Synonym__c":"Hallucinations of sound; Hearing sounds","HPO_Name__c":"Auditory hallucination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002126","HPO_Synonym__c":"More grooves in brain","HPO_Name__c":"Polymicrogyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002521","HPO_Synonym__c":"Hypsarrhythmia by EEG","HPO_Name__c":"Hypsarrhythmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002349","HPO_Synonym__c":"Focal aware seizures; Focal seizure with retained awareness; Focal seizure without impairment of awareness; Focal seizure without impairment of consciousness or awareness; Focal seizures without impairment of consciousness or awareness; Partial seizure with retained awareness; Partial seizure without impairment of awareness; Simple partial seizure; Simple partial seizures","HPO_Name__c":"Focal aware seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Occasional (5-29%)","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:98820","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011185","HPO_Synonym__c":"Focal EEG Abnormality","HPO_Name__c":"EEG with focal epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:98820","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"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002427","HPO_Synonym__c":"Broca's aphasia; Loss of expressive speech; Motor aphasia; Non-fluent aphasia","HPO_Name__c":"Expressive aphasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011171","HPO_Synonym__c":"Simple febrile convulsion; Simple febrile seizures; Simple fever fit","HPO_Name__c":"Simple febrile seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010841","HPO_Synonym__c":"Multifocal EEG abnormality","HPO_Name__c":"Multifocal epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:98820","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:98820","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:98820","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025373","HPO_Name__c":"Interictal EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["epilepsy, familial focal, with variable foci"," familial partial epilepsy with variable foci"," ffevf"," ffevf - familial focal epilepsy with variable foci"," fpevf"]}