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;
Origin ID : 609304;
UMLS CUI : C5574665;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)