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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 30

Developmental and epileptic encephalopathy, 30

Synonyms
Epileptic encephalopathy, early infantile, 30

Summary

Developmental and epileptic encephalopathy-30 (DEE30) is a severe neurologic disorder characterized by onset of refractory seizures soon after birth or in the first months of life. Seizure types include early myoclonic encephalopathy (EME), Ohtahara syndrome, and infantile spasms; most are refractory to treatment. Patients with earlier seizure onset make essentially no developmental progress and may die in infancy. Those with later onset show profoundly impaired global development with absent speech, poor eye contact, inability to walk, behavioral abnormalities, and feeding difficulties that may require a feeding tube (summary by Hansen et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

14 tests are in the database for this condition.

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Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE30, MSK, SIK, SIK-1, SIK1B, SNF1LK, SIK1
    Summary: salt inducible kinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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