" /> Developmental and epileptic encephalopathy 43 - CISMeF





Preferred Label : Developmental and epileptic encephalopathy 43;

Symbol : DEE43;

CISMeF acronym : EIEE43;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE43; Epileptic encephalopathy, early infantile, 43;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-aminobutyric acid receptor, beta-3 gene (GABRB3, 137192.0005);

Prefixed ID : #617113;

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08/07/2025


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