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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 114

Developmental and epileptic encephalopathy 114

Summary

Developmental and epileptic encephalopathy-114 (DEE114) is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder (Platzer et al., 2022). For general phenotypic information and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DEE114, GEFSP12, VGAT, VIAAT, VIAAT GEFSP12, SLC32A1
    Summary: solute carrier family 32 member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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