Developmental and epileptic encephalopathy 14

Preferred Label : Developmental and epileptic encephalopathy 14;

Symbol : DEE14;

CISMeF acronym : EIEE14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 14; EIEE14;

Description : Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium channel, subfamily T, member 1 gene (KCNT1, 608167.0001);

Prefixed ID : #614959;

Details

Origin ID

614959;

UMLS CUI

C3554195;

Automatic exact mappings (from CISMeF team)
- Malignant migrating focal seizures of infancy [ORDO Disease]
Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 14 [NCIt concept]
- developmental and epileptic encephalopathy 14 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 14 [DO Concept]
Genes related to phenotype
- Potassium channel, subfamily t, member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Clonus [HPO term]
- Delayed myelination [HPO term]
- Developmental regression [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Gliosis [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Microcephaly [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Poor eye contact [HPO term]
- Progressive [HPO term]
- Spasticity [HPO term]
- Status epilepticus [HPO term]
- Tetraplegia [HPO term]
ORDO concept(s)
- Malignant migrating focal seizures of infancy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 14 [NCIt concept]

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