Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616366 http://purl.bioontology.org/ontology/OMIM/616366
Preferred Name	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32
Synonyms	DEE32 EIEE32 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DEE32 EIEE32 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
prefLabel	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32
Gene Symbol	KCNA2 DEE32
Scope Statement	Onset in infancy [MISCELLANEOUS] Caused by mutation in the potassium channel, voltage-gated, shaker-related subfamily, member 2 gene (KCNA2, 176262.0001) [MOLECULAR BASIS] De novo mutation [MISCELLANEOUS] Normal development before onset of seizures [MISCELLANEOUS] Seizures may remit later in childhood [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036363 http://purl.bioontology.org/ontology/OMIM/MTHU051572 http://purl.bioontology.org/ontology/OMIM/MTHU033932 http://purl.bioontology.org/ontology/OMIM/MTHU024399 http://purl.bioontology.org/ontology/OMIM/MTHU051571 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU051570 http://purl.bioontology.org/ontology/OMIM/MTHU012868 http://purl.bioontology.org/ontology/OMIM/MTHU028611 http://purl.bioontology.org/ontology/OMIM/MTHU036349 See more See less
tui	T047
Gene Locus	1p13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616366
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4225350
OMIM Entry Type	3
OMIM MimType Value	pound

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