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developmental and epileptic encephalopathy, 34 | RareConnect | RareConnect.io

/malignant migrating partial seizures of infancy

/neonatal-onset developmental and epileptic encephalopathy

/developmental and epileptic encephalopathy, 34

developmental and epileptic encephalopathy, 34

Rare Disease

MONDO:0014718

Also Known As

DEE34EIEE34SLC12A5 early infantile epileptic encephalopathydevelopmental and epileptic encephalopathy 34early infantile epileptic encephalopathy caused by mutation in SLC12A5epileptic encephalopathy, early infantile, 34epileptic encephalopathy, early infantile, 34; EIEE34epileptic encephalopathy, early infantile, type 34

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 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:616645 ↗

GARD

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