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developmental and epileptic encephalopathy, 3

Disease Summary
Associated Targets (1)


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Mondo Description Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.
Uniprot Description A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Epileptic encephalopathy early infantile type 3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state.
Mondo Term and Equivalent IDs
MONDO:0012245:  developmental and epileptic encephalopathy, 3
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found