Malignant migrating partial seizures of infancy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MMPEI MPSI MPEI MMPSI Migrating partial epilepsy of infancy Malignant migrating partial epilepsy of infancy Migrating partial seizures of infancy |
| Number of Symptoms | 8 |
| OrphanetNr: | 293181 |
| OMIM Id: |
613722
614959 615338 |
| ICD-10: |
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| 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: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
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:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0002197) | Generalized seizures | 30 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0007359) | Focal seizures | 27 / 7739 | ||||
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(HPO:0002521) | Hypsarrhythmia | 43 / 7739 | ||||
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(HPO:0200134) | Epileptic encephalopathy | 42 / 7739 | ||||
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(HPO:0008936) | Muscular hypotonia of the trunk | 77 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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