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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617080
http://purl.bioontology.org/ontology/OMIM/617080
|
|---|---|
| Preferred Name | SEIZURES, BENIGN FAMILIAL INFANTILE, 5 |
| Synonyms |
BFIS5
CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5
BFIC5
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
BFIS5
CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5
BFIC5
|
|---|---|
| prefLabel | SEIZURES, BENIGN FAMILIAL INFANTILE, 5
|
| Gene Symbol |
CIAT
SCN8A
MYOCL2
BFIS5
DEE13
|
| Scope Statement | Onset between 6 and 12 months [MISCELLANEOUS]
Favorable prognosis [MISCELLANEOUS]
Seizures are well-controlled by sodium channel blockers [MISCELLANEOUS]
Seizures tend to remit by age 2 years [MISCELLANEOUS]
Some patients may have single seizures later in childhood [MISCELLANEOUS]
Caused by mutation in the sodium channel, voltage-gated type VIII, alpha subunit gene (SCN8A, 600702.0010) [MOLECULAR BASIS]
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|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 12q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617080
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4310728
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |