" /> Developmental and epileptic encephalopathy 3 - CISMeF





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;

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04/05/2025


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