Developmental and epileptic encephalopathy 12

Preferred Label : Developmental and epileptic encephalopathy 12;

Symbol : DEE12;

CISMeF acronym : EIEE12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 12; EIEE12;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phospholipase C, beta-1 gene (PLCB1, 607120.0001);

Prefixed ID : #613722;

Details

Origin ID

613722;

UMLS CUI

C3150988;

Automatic exact mappings (from CISMeF team)
- Malignant migrating focal seizures of infancy [ORDO Disease]
Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 12 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 12 [DO Concept]
Genes related to phenotype
- Phospholipase C, beta-1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Epileptic encephalopathy [HPO term]
- Focal-onset seizure [HPO term]
- Generalized-onset seizure [HPO term]
- Hyperreflexia [HPO term]
- Hypsarrhythmia [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Infantile spasms syndrome [ORDO Disease]
- Malignant migrating focal seizures of infancy [ORDO Disease]
See also inter- (CISMeF)
- Early infantile epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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