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developmental and epileptic encephalopathy, 42 | RareConnect | RareConnect.io

/undetermined early-onset epileptic encephalopathy

/CACNA1A-related complex neurodevelopmental disorder

/neonatal-onset developmental and epileptic encephalopathy

/developmental and epileptic encephalopathy, 42

developmental and epileptic encephalopathy, 42

Rare Disease

MONDO:0014917

Also Known As

CACNA1A early infantile epileptic encephalopathyDEE42EIEE42developmental and epileptic encephalopathy 42early infantile epileptic encephalopathy caused by mutation in CACNA1Aepileptic encephalopathy, early infantile, 42epileptic encephalopathy, early infantile, 42; EIEE42epileptic encephalopathy, early infantile, type 42

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A 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:617106 ↗

GARD

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