Developmental and epileptic encephalopathy 26

Preferred Label : Developmental and epileptic encephalopathy 26;

Symbol : DEE26;

CISMeF acronym : EIEE26;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE26; Epileptic encephalopathy, early infantile, 26;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-gated potassium channel, SHAB-related subfamily, member 1 gene (KCNB1, 600397.0001);

Prefixed ID : #616056;

Details

Origin ID

616056;

UMLS CUI

C4015119;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 26 [NCIt concept]
- developmental and epileptic encephalopathy 26 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 26 [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, shab-related subfamily, member 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Atonic seizure [HPO term]
- Atypical absence seizure [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Bilateral tonic-clonic seizure with focal onset [HPO term]
- Childhood onset [HPO term]
- Epileptic encephalopathy [HPO term]
- Focal impaired awareness seizure [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- Infantile spasms [HPO term]
- Neonatal onset [HPO term]
- Stereotypical hand wringing [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 26 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients