{
  "id": 19725,
  "label": "childhood-onset epilepsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020072",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 16,
  "parents": [
    {
      "id": 16436,
      "label": "epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6761
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020083",
          "MEDGEN:1371141",
          "Orphanet:166463",
          "UMLS:C4505072"
        ],
        "synonyms": [
          "epileptic syndrome",
          "syndromic epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndrome that has a characteristic cluster of clinical features and/or lectroencephalographic (EEG) findings that reflect underlying epileptic activity. It is often associated with a range of other health issues, including cognitive impairment, intellectual disability, physical gross motor and fine motor delays, speech and language deficits, and impacts to other bodily functions and may be supported by specific etiological findings—such as structural, genetic, metabolic, immune, or infectious causes or have an unknown etiology."
      },
      "child_count": 8,
      "reference_id": "MONDO:0015650"
    }
  ],
  "children": [
    {
      "id": 8938,
      "label": "self-limited childhood occipital epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002170",
          "MEDGEN:377052",
          "OMIM:132090",
          "Orphanet:25968",
          "UMLS:C1851549",
          "icd11.foundation:49954675"
        ],
        "synonyms": [
          "benign occipital epilepsy",
          "BOE",
          "epilepsy, benign occipital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes."
      },
      "child_count": 2,
      "reference_id": "MONDO:0007558"
    },
    {
      "id": 10734,
      "label": "Landau-Kleffner syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19725,
        29313
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2538",
          "EFO:1001010",
          "GARD:0006855",
          "MEDGEN:79465",
          "MESH:D018887",
          "MedDRA:10052075",
          "MedDRA:10052083",
          "NANDO:1200602",
          "NCIT:C84806",
          "Orphanet:98818",
          "SCTID:230438007",
          "UMLS:C0282512",
          "icd11.foundation:348544271"
        ],
        "synonyms": [
          "LKS",
          "Landau-Kleffner syndrome",
          "acquired epileptic aphasia",
          "FESD",
          "Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant",
          "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant",
          "acquired aphasia with convulsive disorder",
          "acquired epileptiform aphasia",
          "aphasia, acquired, with epilepsy",
          "benign epilepsy of childhood with centrotemporal spikes",
          "continuous Spike and waves during slow-Wave sleep syndrome",
          "epilepsy, focal, with speech disorder and with or without impaired intellectual development",
          "epilepsy, focal, with speech disorder and with or without intellectual disability",
          "epilepsy, focal, with speech disorder and with or without mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare form of epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS) characterized by various combinations of acquired cognitive, language, behavioral, and motor deficits associated with marked spike- and- wave activation in sleep. In Landau-Kleffner syndrome, receptive language is mainly affected, with an acquired auditory verbal agnosia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009509"
    },
    {
      "id": 13041,
      "label": "rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19725,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111645",
          "GARD:0017003",
          "MEDGEN:334104",
          "MESH:C535499",
          "OMIM:608105",
          "Orphanet:163727",
          "UMLS:C1842531",
          "icd11.foundation:1311096281"
        ],
        "synonyms": [
          "epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp",
          "EPRPDC",
          "Re-ped-Wc",
          "epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011970"
    },
    {
      "id": 16207,
      "label": "perioral myoclonia with absences",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019915",
          "MEDGEN:1637328",
          "Orphanet:139426",
          "SCTID:766815007",
          "UMLS:C4707846",
          "icd11.foundation:1067045592"
        ],
        "synonyms": [
          "POMA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015345"
    },
    {
      "id": 16386,
      "label": "cryptogenic late-onset epileptic spasms",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020050",
          "MEDGEN:1666207",
          "Orphanet:163708",
          "UMLS:C4755310",
          "icd11.foundation:457378168"
        ],
        "synonyms": [
          "late-onset infantile spasms"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015585"
    },
    {
      "id": 16387,
      "label": "rolandic epilepsy-speech dyspraxia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017002",
          "MEDGEN:1633042",
          "Orphanet:163721",
          "UMLS:C4707308",
          "icd11.foundation:288052868"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015587"
    },
    {
      "id": 17644,
      "label": "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19725,
        29313
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021134",
          "MEDGEN:1663334",
          "OMIM:245570",
          "OMIM:613971",
          "Orphanet:289266",
          "UMLS:C4749281",
          "icd11.foundation:1655554340"
        ],
        "synonyms": [
          "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation",
          "epilepsy, focal, with speech disorder and with or without impaired intellectual development"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare intellectual disability and epilepsy syndrome due to mutation in GRIN2A gene. It is characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017325"
    },
    {
      "id": 17942,
      "label": "familial partial epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7064,
        19725,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 21,
      "reference_id": "MONDO:0017704"
    },
    {
      "id": 18332,
      "label": "acute encephalopathy with biphasic seizures and late reduced diffusion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19725,
        20092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021552",
          "MEDGEN:1645136",
          "NANDO:1200552",
          "NANDO:2100247",
          "NANDO:2200901",
          "Orphanet:363549",
          "SCTID:766044005",
          "UMLS:C4707658"
        ],
        "synonyms": [
          "AESD",
          "AIEF",
          "acute infantile encephalopathy predominantly affecting the frontal lobes"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018198"
    },
    {
      "id": 18333,
      "label": "new-onset refractory status epilepticus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012244",
          "MEDGEN:1657271",
          "Orphanet:363558",
          "UMLS:C4749462"
        ],
        "synonyms": [
          "NORSE",
          "Norse",
          "De novo cryptogenic refractory multifocal febrile status epilepticus",
          "New onset refractory status epilepticus"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018199"
    },
    {
      "id": 23778,
      "label": "atypical childhood epilepsy with centrotemporal spikes",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19725
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "atonic-benign childhood epilepsy with centrotemporal spikes",
          "atypical benign partial epilepsy of childhood",
          "pseudo-Lennox syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100020"
    },
    {
      "id": 24254,
      "label": "Sunflower syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16429,
        19725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026263"
        ],
        "synonyms": [
          "EEM with prominent photic induction"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, photosensitive epileptic disorder characterized by highly stereotyped seizures. During these seizures, individuals with Sunflower syndrome turn toward a bright light while simultaneously waving one hand in front of their eyes. This unique behavior is coupled with abrupt lapses in consciousness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100529"
    },
    {
      "id": 25082,
      "label": "childhood-onset genetic generalized epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19725,
        24299
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027301"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetic generalized epilepsy that has an onset during childhood."
      },
      "child_count": 4,
      "reference_id": "MONDO:0800498"
    },
    {
      "id": 25083,
      "label": "childhood-onset idiopathic generalized epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7224,
        19725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027302"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An idiopathic generalized epilepsy that has an onset during childhood."
      },
      "child_count": 2,
      "reference_id": "MONDO:0800499"
    },
    {
      "id": 25084,
      "label": "childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027303"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A childhood-onset epilepsy syndrome where the onset of the condition includes manifestations of cognitive, neurological, or psychiatric impairment, stagnation, or regression, due directly to the underlying etiology. In contrast, an epileptic encephalopathy (EE) is present when the encephalopathy is caused by the epileptic activity. The term developmental and epileptic encephalopathy (DEE) is used when both factors contribute to the patient’s condition."
      },
      "child_count": 5,
      "reference_id": "MONDO:0800500"
    },
    {
      "id": 25086,
      "label": "childhood-onset self-limited focal epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7064,
        19725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027305"
        ],
        "synonyms": [
          "childhood-onset SeLFE"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of conditions characterized by age-dependent occurrence in otherwise normal children. Cognition and neurological evaluation are typically normal. Remission occurs in almost all patients by puberty. Presumed genetic factors have an important role. Seizure semiology and electroencephalographic (EEG) features are specific for each of the syndromes included in this group."
      },
      "child_count": 8,
      "reference_id": "MONDO:0800502"
    }
  ],
  "roots": [
    {
      "id": 16436,
      "label": "epilepsy syndrome"
    }
  ]
}