Early infantile epileptic encephalopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
EIEE Early infantile epileptic encephalopathy with suppression-bursts Ohtahara syndrome |
| Number of Symptoms | 14 |
| OrphanetNr: | 1934 |
| OMIM Id: |
308350
609304 612164 613477 613720 613721 613722 614558 615473 |
| ICD-10: |
G40.3 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 88 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive X-linked recessive Not applicable [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
ARX-related epileptic encephalopathy
-Rare genetic disease -Rare neurologic disease Channelopathy with epilepsy -Rare genetic disease -Rare neurologic disease Neonatal epilepsy syndrome -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0200134) | Epileptic encephalopathy | 42 / 7739 | ||||
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(HPO:0001266) | Choreoathetosis | 57 / 7739 | ||||
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002521) | Hypsarrhythmia | 43 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0002123) | Generalized myoclonic seizures | 62 / 7739 | ||||
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(HPO:0001332) | Dystonia | 197 / 7739 | ||||
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(HPO:0002094) | Dyspnea | 132 / 7739 | ||||
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(HPO:0008936) | Muscular hypotonia of the trunk | 77 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | 253 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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