" /> Developmental and epileptic encephalopathy 4 - CISMeF





Preferred Label : Developmental and epileptic encephalopathy 4;

Symbol : DEE4;

CISMeF acronym : EIEE4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 4; EIEE4;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the syntaxin-binding protein 1 gene (STXBP1, 602926.0001);

Prefixed ID : #612164;

Details


You can consult :


Nous contacter.
02/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.