Developmental and epileptic encephalopathy 3

Preferred Label : Developmental and epileptic encephalopathy 3;

Symbol : DEE3;

CISMeF acronym : EIEE3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 3; EIEE3;

Description : Early infantile epileptic encephalopathy is characterized by onset during the first months of life of erratic refractory seizures, usually myoclonic. The prognosis is poor, and most children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. The EEG pattern often shows a suppression-burst pattern with high-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases (Molinari et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial carrier, glutamate), member 22 gene (SLC25A22, 609302.0001);

Prefixed ID : #609304;

Détails

Origin ID

609304;

UMLS CUI

C5574665;

Automatic exact mappings (from CISMeF team)
- Early myoclonic encephalopathy [ICD-11 More detail]
- brain death [MeSH Descriptor]
- solute carrier family 25 member 22 [ORDO Gene]
- solute carrier family 25 member 22 [HGNC gene]
- status epilepticus [MeSH Descriptor]
Currated CISMeF NLP mapping
- Early Myoclonic Encephalopathy [NCIt concept]
- Early myoclonic encephalopathy [ORDO Disease]
- Early myoclonic encephalopathy (disorder) [SNOMED CT concept]
- developmental and epileptic encephalopathy 3 [DO Concept]
- early myoclonic encephalopathy [SNOMED Notion]
- early myoclonic encephalopathy [DO Concept]
- epileptic encephalopathy, early infantile, 3 [MeSH concept]
- epileptic encephalopathy, early infantile, 3 [MeSH Supplementary Concept]
DO Cross reference
- developmental and epileptic encephalopathy 3 [DO Concept]
Genes related to phenotype
- Solute carrier family 25 (mitochondrial carrier, glutamate), member 22 [OMIM gene]
HPO term(s)
- Abnormality of visual evoked potentials [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Death in childhood [HPO term]
- Delayed myelination [HPO term]
- Early death [HPO term]
- Encephalopathy [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized myoclonic seizure [HPO term]
- Myoclonic seizures, intractable [HPO term]
- Neonatal hypotonia [HPO term]
- Progressive microcephaly [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Early infantile epileptic encephalopathy [ORDO Disease]
- Early myoclonic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Early Myoclonic Encephalopathy [NCIt concept]
- Early myoclonic encephalopathy [ORDO Disease]
- Early myoclonic encephalopathy (disorder) [SNOMED CT concept]
- developmental and epileptic encephalopathy 3 [DO Concept]
- early myoclonic encephalopathy [SNOMED Notion]
- epileptic encephalopathy, early infantile, 3 [MeSH Supplementary Concept]
- epileptic encephalopathy, early infantile, 3 [MeSH concept]

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