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developmental and epileptic encephalopathy, 25 | RareConnect | RareConnect.io

/undetermined early-onset epileptic encephalopathy

/neonatal-onset developmental and epileptic encephalopathy

/developmental and epileptic encephalopathy, 25

developmental and epileptic encephalopathy, 25

Rare Disease

MONDO:0014392

Also Known As

DEE25EIEE25SLC13A5 Citrate Transporter DisorderSLC13A5 early infantile epileptic encephalopathydevelopmental and epileptic encephalopathy 25, with amelogenesis imperfectadevelopmental and epileptic encephalopathy, 25early infantile epileptic encephalopathy 25early infantile epileptic encephalopathy caused by mutation in SLC13A5epileptic encephalopathy, early infantile, 25epileptic encephalopathy, early infantile, type 25SLC13A5 deficiency

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 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:615905 ↗

GARD

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