Benign familial infantile seizures
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BFIS BFIE Benign familial infantile epilepsy Benign familial infantile convulsions |
| Number of Symptoms | 24 |
| OrphanetNr: | 306 |
| OMIM Id: |
601764
605751 607745 612627 |
| 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: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Benign partial infantile seizures
-Rare genetic disease -Rare neurologic disease Idiopathic or cryptogenic familial epileptic syndrome with identified loci/genes -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000606) | Abnormality of the periorbital region | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000478) | Abnormality of the eye | Very frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0002197) | Generalized seizures | 30 / 7739 | ||||
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(HPO:0002372) | Normal interictal EEG | 5 / 7739 | ||||
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(HPO:0011146) | Dialeptic seizures | 2 / 7739 | ||||
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(HPO:0002167) | Neurological speech impairment | Occasional [Orphanet] | 308 / 7739 | |||
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(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0000763) | Sensory neuropathy | Frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0001276) | Hypertonia | Frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002315) | Headache | Occasional [Orphanet] | 175 / 7739 | |||
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(HPO:0004305) | Involuntary movements | Frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0002354) | Memory impairment | Occasional [Orphanet] | 63 / 7739 | |||
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(HPO:0007359) | Focal seizures | 27 / 7739 | ||||
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(HPO:0007334) | Bilateral convulsive seizures | 6 / 7739 | ||||
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(HPO:0000738) | Hallucinations | Occasional [Orphanet] | 60 / 7739 | |||
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(HPO:0004372) | Reduced consciousness/confusion | Very frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0011442) | Abnormality of central motor function | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0002017) | Nausea and vomiting | Occasional [Orphanet] | 134 / 7739 | |||
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(HPO:0000961) | Cyanosis | 60 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | Frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0040168) | Focal seizures, afebril | 6 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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