{ "id": 17942, "label": "familial partial epilepsy", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0017704", "properties": { "xrefs": [ "GARD:0002173", "MEDGEN:1826100", "Orphanet:309", "UMLS:C5680862" ], "synonyms": [ "familial focal epilepsy", "hereditary partial epilepsy", "epilepsy, partial, familial" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome." }, "isLeaf": false, "isRoot": false, "child_count": 7, "parents": [ { "id": 7064, "label": "focal epilepsy", "isLeaf": false, "isRoot": false, "parents": [ 6761 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2234", "EFO:0004263", "ICD9:345.50", "MEDGEN:41836", "MESH:D004828", "NCIT:C122812", "SCTID:230381009", "UMLS:C0014547" ], "synonyms": [ "focal epilepsy", "partial epilepsy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A seizure caused by a localized disorder." }, "child_count": 9, "reference_id": "MONDO:0005384" }, { "id": 19725, "label": "childhood-onset epilepsy syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16436 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019437", "MEDGEN:1843031", "Orphanet:98259", "UMLS:C5681526" ], "synonyms": [ "childhood epilepsy syndrome", "childhood-onset epilepsy syndrome", "epilepsy syndrome of childhood", "paediatric epilepsy syndrome", "pediatric epilepsy syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A epilepsy syndrome that occurs during childhood." }, "child_count": 16, "reference_id": "MONDO:0020072" }, { "id": 24270, "label": "hereditary neurological disease", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6799 ], "type_id": 0, "properties": { "synonyms": [ "neurogenetic disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles." }, "child_count": 528, "reference_id": "MONDO:0100545" } ], "children": [ { "id": 2707, "label": "familial sleep-related hypermotor epilepsy", "isLeaf": false, "isRoot": false, "parents": [ 17942, 24350 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060681", "GARD:0011918", "GARD:0022703", "MEDGEN:1865268", "MEDGEN:777188", "MESH:C579932", "OMIMPS:600513", "Orphanet:98784", "SCTID:698021005", "UMLS:C3696898", "UMLS:C5577629", "icd11.foundation:1004734747" ], "synonyms": [ "ADNFLE", "autosomal dominant nocturnal frontal lobe epilepsy", "epilepsy, nocturnal frontal lobe, familial", "familial sleep-related hyperkinetic epilepsy", "familial sleep-related hypermotor epilepsy", "famillial SHE" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of sleep-related hypermotor epilepsy that is caused by an inherited genomic modification in an individual." }, "child_count": 10, "reference_id": "MONDO:0000030" }, { "id": 6841, "label": "temporal lobe epilepsy", "isLeaf": false, "isRoot": false, "parents": [ 17942 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3328", "EFO:0000773", "GARD:0005135", "MEDGEN:4990", "MESH:D004833", "NCIT:C177244", "OMIMPS:600512", "Orphanet:98819", "SCTID:193000002", "SCTID:783739005", "UMLS:C0014556", "birnlex:12733" ], "synonyms": [ "epilepsy of temporal lobe", "epilepsy, familial temporal lobe", "familial temporal lobe epilepsy syndrome", "temporal lobe epilepsy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" }, "child_count": 6, "reference_id": "MONDO:0005115" }, { "id": 8695, "label": "self-limited epilepsy with centrotemporal spikes", "isLeaf": false, "isRoot": false, "parents": [ 17942, 25086 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3329", "GARD:0010287", "ICD9:345.80", "MEDGEN:138210", "NCIT:C116538", "OMIM:117100", "Orphanet:1945", "SCTID:44145005", "UMLS:C0376532", "icd11.foundation:1046279423" ], "synonyms": [ "BCECTS", "BECRS", "BECTS", "BRE", "Rolandic epilepsy", "benign Rolandic epilepsy", "benign Rolandic epilepsy (BRE)", "benign Rolandic epilepsy of childhood (BREC)", "benign childhood epilepsy with centrotemporal spikes", "benign epilepsy of childhood with centrotemporal spikes", "benign epilepsy with centrotemporal spikes", "benign familial epilepsy of childhood with rolandic spikes", "centralopathic epilepsy", "centrotemporal epilepsy", "centrotemporal epilepsy, isolated cases", "childhood epilepsy with centrotemporal spikes", "temporal-central focal epilepsy", "benign epilepsy of childhood with centrotemporal spikes (BECCT)", "benign epilepsy with centro-temporal spikes (BECTS)" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A childhood-onset epilepsy syndrome that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit." }, "child_count": 2, "reference_id": "MONDO:0007295" }, { "id": 12031, "label": "autosomal dominant epilepsy with auditory features", "isLeaf": true, "isRoot": false, "parents": [ 17942, 25080 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002257", "MEDGEN:325326", "MESH:C537297", "Orphanet:101046", "UMLS:C1838062", "icd11.foundation:832717248" ], "synonyms": [ "ADEAF", "ADLTE", "ADPEAF", "Autosomal dominant epilepsy with auditory features", "adolescent/adult onset autosomal dominant epilepsy with auditory features", "autosomal dominant epilepsy with auditory features", "autosomal dominant lateral temporal lobe epilepsy", "autosomal dominant partial/lateral temporal epilepsy with auditory features", "partial epilepsy with auditory aura", "partial epilepsy with auditory features", "autosomal dominant partial epilepsy with auditory features" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution." }, "child_count": 0, "reference_id": "MONDO:0010898" }, { "id": 13335, "label": "generalized epilepsy-paroxysmal dyskinesia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17942 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070442", "GARD:0016704", "MEDGEN:1801137", "MESH:C563719", "OMIM:609446", "Orphanet:79137", "UMLS:C5574945" ], "synonyms": [ "GEPD", "PNKD3", "epilepsy, generalized, with paroxysmal dyskinesia", "generalised epilepsy and paroxysmal dyskinesia", "generalized epilepsy and paroxysmal dyskinesia", "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsy", "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0012276" }, { "id": 19789, "label": "familial focal epilepsy with variable foci", "isLeaf": false, "isRoot": false, "parents": [ 17942, 25076 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081420", "GARD:0013295", "MEDGEN:348951", "MESH:C565785", "OMIMPS:604364", "Orphanet:98820", "SCTID:764522009", "UMLS:C1858477", "icd11.foundation:855404450" ], "synonyms": [ "FFEVF", "epilepsy, familial focal, with variable foci", "familial focal epilepsy with variable foci", "familial partial epilepsy with variable foci" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "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." }, "child_count": 8, "reference_id": "MONDO:0020310" }, { "id": 19933, "label": "mesial temporal lobe epilepsy with hippocampal sclerosis", "isLeaf": true, "isRoot": false, "parents": [ 17942 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019684", "MEDGEN:1659013", "NANDO:1200588", "Orphanet:99701", "UMLS:C4749367" ], "synonyms": [ "MTLE-HS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or asymmetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits." }, "child_count": 0, "reference_id": "MONDO:0020476" } ], "roots": [ { "id": 7064, "label": "focal epilepsy" }, { "id": 19725, "label": "childhood-onset epilepsy syndrome" }, { "id": 24270, "label": "hereditary neurological disease" } ] }