Developmental and Epileptic Encephalopathy 21 (DEE21)

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Disease Ontology 12 DOID:0080443 OMIM® 57 615833 OMIM Phenotypic Series 57 PS308350

MeSH 44 D013036 MedGen 41 C4014430 CN188266 SNOMED-CT via HPO 68 128613002 224958001 246545002 258211005 276369006 278849000 313307000 41581000 418143002 52522001 56731001 78164000 84757009 91175000 more

OMIM® : ⁵⁷ Developmental and epileptic encephalopathy-21 (DEE21) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life. Affected individuals have severely impaired psychomotor development with poor head control and inability to fix and follow visually. Other features may include axial hypotonia, peripheral hypertonia, and cerebral atrophy or delayed myelination on brain imaging (summary by Alazami et al., 2014 and Alsahli et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (615833) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 21, also known as early infantile epileptic encephalopathy 21, is related to early infantile epileptic encephalopathy and encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 21 is NECAP1 (NECAP Endocytosis Associated 1). Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and hypertonia

Disease Ontology : ¹² A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has material basis in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 21: A severe disease characterized by intractable seizures, profound global developmental delay, and persistent severe axial hypotonia as well as appendicular hypertonia.

Clinical features from OMIM®:

615833 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 21

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 21.