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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 8

Developmental and epileptic encephalopathy, 8

Synonyms
ARHGEF9-Related Hyperekplexia; Early infantile epileptic encephalopathy 8; HYPEREKPLEXIA AND EPILEPSY
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Developmental and epileptic encephalopathy-8 (DEE8) is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011). For general phenotypic descriptions and discussions of genetic heterogeneity of developmental and epileptic encephalopathy and hyperekplexia, see DEE1 (308350) and HKPX1 (149400), respectively. [from OMIM]

Available tests

52 tests are in the database for this condition.

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Clinical tests (52 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COLLYBISTIN, DEE8, EIEE8, HPEM-2, PEM-2, PEM2, ARHGEF9
    Summary: Cdc42 guanine nucleotide exchange factor 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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