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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 91

Developmental and epileptic encephalopathy 91

Synonyms
Epileptic encephalopathy, infantile or early childhood, 1

Summary

Developmental and epileptic encephalopathy-91 (DEE91) is characterized by delayed psychomotor development apparent in infancy and resulting in severely to profoundly impaired intellectual development with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACCIID, CALN, CALNA, CALNA1, CCN1, CNA1, DEE91, IECEE, IECEE1, PPP2B, PPP3CA
    Summary: protein phosphatase 3 catalytic subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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