GTR Home > Conditions/Phenotypes > Epileptic encephalopathy, early infantile, 35

Summary

Early infantile epileptic encephalopathy-35 is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. Many patients die in early childhood (summary by Kevelam et al., 2015) For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see 308350. [from OMIM]

Available tests

6 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: C20orf37, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3, ITPA
    Summary: inosine triphosphatase

Clinical features

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