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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618285
http://purl.bioontology.org/ontology/OMIM/618285
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 |
| Synonyms |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EIEE69
DEE69
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EIEE69
DEE69
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69
|
| Gene Symbol |
DEE69
CACNL1A6
CACNA1E
|
| Scope Statement | Topiramate may have a favorable response on seizures [MISCELLANEOUS]
Variable age at seizure onset [MISCELLANEOUS]
Death in childhood (in some patients) [MISCELLANEOUS]
Later onset of seizures in the first year of life may also occur [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Most patients have onset of seizures in the first months of life [MISCELLANEOUS]
Caused by mutation in the calcium channel, voltage-dependent, alpha-1E subunit gene (CACNA1E, 601013.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 1q25-q31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618285
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748988
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |