Developmental and epileptic encephalopathy 4

Preferred Label : Developmental and epileptic encephalopathy 4;

Symbol : DEE4;

CISMeF acronym : EIEE4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 4; EIEE4;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the syntaxin-binding protein 1 gene (STXBP1, 602926.0001);

Prefixed ID : #612164;

Détails

Origin ID

612164;

UMLS CUI

C2677326;

Automatic exact mappings (from CISMeF team)
- Ohtahara syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 4 [NCIt concept]
- Early infantile epileptic encephalopathy [ORDO Disease]
- Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) [SNOMED CT concept]
- developmental and epileptic encephalopathy 4 [DO Concept]
- early infantile epileptic encephalopathy 4 [Disease (Nov.)]
- epileptic encephalopathy, early infantile, 4 [MeSH concept]
- epileptic encephalopathy, early infantile, 4 [MeSH Supplementary Concept]
DO Cross reference
- developmental and epileptic encephalopathy 4 [DO Concept]
Genes related to phenotype
- Syntaxin-binding protein 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral hypomyelination [HPO term]
- Developmental regression [HPO term]
- EEG with burst suppression [HPO term]
- Epileptic encephalopathy [HPO term]
- Epileptic spasm [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized tonic seizure [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Impaired horizontal smooth pursuit [HPO term]
- Infantile encephalopathy [HPO term]
- Intellectual disability, severe [HPO term]
- Neonatal onset [HPO term]
- Severe global developmental delay [HPO term]
- Spastic paraplegia [HPO term]
- Spastic tetraplegia [HPO term]
- Status epilepticus [HPO term]
- Thin corpus callosum [HPO term]
- Tremor [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Dravet syndrome [ORDO Disease]
- Early infantile epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 4 [NCIt concept]
- Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) [SNOMED CT concept]
- early infantile epileptic encephalopathy 4 [Disease (Nov.)]
- epileptic encephalopathy, early infantile, 4 [MeSH Supplementary Concept]
- epileptic encephalopathy, early infantile, 4 [MeSH concept]
Validated automatic mappings to NTBT
- Developmental and Epileptic Encephalopathy [NCIt concept]
- early infantile epileptic encephalopathy [Disease (Nov.)]

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