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developmental and epileptic encephalopathy, 45 | RareConnect | RareConnect.io

/undetermined early-onset epileptic encephalopathy

/neonatal-onset developmental and epileptic encephalopathy

/developmental and epileptic encephalopathy, 45

developmental and epileptic encephalopathy, 45

Rare Disease

MONDO:0014942

Also Known As

DEE45EIEE45GABRB1 early infantile epileptic encephalopathydevelopmental and epileptic encephalopathy 45early infantile epileptic encephalopathy caused by mutation in GABRB1epileptic encephalopathy, early infantile, 45epileptic encephalopathy, early infantile, 45; EIEE45epileptic encephalopathy, early infantile, type 45

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:617153 ↗

GARD

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