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developmental and epileptic encephalopathy, 30 | RareConnect | RareConnect.io

/infantile spasms

/genetic developmental and epileptic encephalopathy

/early-infantile DEE

/developmental and epileptic encephalopathy, 30

developmental and epileptic encephalopathy, 30

Rare Disease

MONDO:0014595

Also Known As

DEE30EIEE30SIK1 early infantile epileptic encephalopathydevelopmental and epileptic encephalopathy 30early infantile epileptic encephalopathy caused by mutation in SIK1epileptic encephalopathy, early infantile, 30epileptic encephalopathy, early infantile, type 30

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 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:616341 ↗

GARD

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