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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614959
http://purl.bioontology.org/ontology/OMIM/614959
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 |
| Synonyms |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
EIEE14
DEE14
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
EIEE14
DEE14
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14
|
| Gene Symbol |
KCNT1
ENFL5
DEE14
KIAA1422
|
| Scope Statement | Seizures become nearly continuous [MISCELLANEOUS]
Onset of seizures in first 6 months of life [MISCELLANEOUS]
Caused by mutation in the potassium channel, subfamily T, member 1 gene (KCNT1, 608167.0001) [MOLECULAR BASIS]
Variable ictal semiology [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Seizures are refractory to treatment [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
Normal development until onset of seizures [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 9q34.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614959
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3554195
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |