{
  "id": 25072,
  "label": "neonatal/infantile-onset self-limited epilepsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800488",
  "properties": {
    "xrefs": [
      "GARD:0027296"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An epilepsy syndrome characterized by the onset of seizures in neonates/infants where there is a high likelihood of spontaneously remitting at a predictable age."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 23780,
      "label": "neonatal/infantile epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:693802"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An epilepsy sydrome that has an onset during the neonatal or infantile stage of life."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100022"
    }
  ],
  "children": [
    {
      "id": 23782,
      "label": "self-limited familial infantile epilepsy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23948,
        25072
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027273"
        ],
        "synonyms": [
          "SeLFIE",
          "self-limited familial and non-familial infantile seizures"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100024"
    },
    {
      "id": 23949,
      "label": "self-limited familial neonatal-infantile epilepsy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25072
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026082",
          "MEDGEN:1803744",
          "UMLS:C5671283"
        ],
        "synonyms": [
          "SeLFNIE"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An epilepsy syndrome associated with infantile period seizures, complete or nearly-complete seizure remission afterwards, usually good developmental outcome, and dominant transmission with high penetrance in pedigrees. For most affected infants, seizures begin within the first week after term birth. In a minority, however, seizures can begin after the first week but within the first several months of life. At onset, seizures may be highly recurrent, and often feature unilateral tonic limb stiffening that may alternate sides from seizure to seizure, accompanied by cyanosis and autonomic features. Limb shaking movements occur, but not in the evolving rhythmic pattern of tonic-clonic convulsions in older individuals. Neurological examination of the infant is normal between seizures. Although these seizures remit by 4-12 months of age in the majority, 15-30% of those affected have one or more seizure recurrences later, including febrile seizures, focal-onset seizures, and convulsions. Although most affected children show typical development, individuals with mild learning difficulties have been reported in families where the majority develop typically."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100208"
    },
    {
      "id": 24291,
      "label": "myoclonic epilepsy in infancy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19724,
        24301,
        25072
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019086",
          "MEDGEN:148242",
          "Orphanet:86909",
          "UMLS:C0751120"
        ],
        "synonyms": [
          "MEI",
          "benign myoclonic epilepsy of infancy",
          "benign myoclonus epilepsy of infancy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neonatal/infantile epilepsy syndrome that is characterized by the onset of myoclonic seizures between the ages of 6-18 months (range 4 months to 3 years). Males are twice as likely to be affected as females. Antecedent and birth history is unremarkable. Head size and neurological examination are normal. Prior development is usually normal. Cognitive, motor and behavioral difficulties are reported, especially if seizures are poorly controlled. Developmental outcome is normal in 60-85% of cases. Mild intellectual impairment and attention problems can be seen."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100566"
    },
    {
      "id": 25063,
      "label": "self-limited neonatal seizures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25072
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026572"
        ],
        "synonyms": [
          "SeLNE"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neonatal/infantile epilepsy syndrome where seizures start in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. This is distinguished from familial neonatal epilepsy on the basis of family history. These entities may have similar genetic etiologies, with de novo mutations responsible for the lack of family history in self-limited neonatal seizures."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800479"
    },
    {
      "id": 25073,
      "label": "genetic epilepsy with febrile seizures plus spectrum",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25072
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027297"
        ],
        "synonyms": [
          "GEFS+"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neonatal/infantile-onset self-limited familial syndrome characterized by the presence of febrile seizures in an individual with a family history of seizures/epilepsy. Febrile seizures may be typical febrile seizures or 'febrile seizures plus' (FS+) may occur, where febrile seizures continue past 6 years of age and/or are accompanied by afebrile seizures which may be generalized or focal. FS+ and GEFS+ are distinguished on the basis of family history. A number of dominantly inherited genes have been linked to both GEFS+ and FS+, with implications for specific genetic counselling, due to the variable severity of the epilepsy in different family members. Although febrile seizures are the hallmark of this familial syndrome, not all individuals in a family may have these."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800489"
    }
  ],
  "roots": [
    {
      "id": 23780,
      "label": "neonatal/infantile epilepsy syndrome"
    }
  ]
}