Developmental and Epileptic Encephalopathy 83 (DEE83)

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Disease Ontology 12 DOID:0112218 OMIM® 57 618744 OMIM Phenotypic Series 57 PS308350

MeSH 44 D013036 MedGen 41 C5231487 CN263209 SNOMED-CT via HPO 68 128613002 204043002 221360009 236069009 246545002 253207002 258211005 271611007 278849000 299330008 31216003 313307000 397790002 412786000 563001 609225004 84757009 86854008 90145001 91175000 91327001 95515009 more

OMIM® : ⁵⁷ Developmental and epileptic encephalopathy-83 (DEE83) is a severe autosomal recessive neurodevelopmental disorder characterized by onset of frequent seizures in the first days to months of life that are usually refractory to medical treatment and are associated with significant EEG abnormalities. Affected individuals have profoundly impaired development, with no motor or language skill acquisition, poor or absent visual tracking, and poor oromotor function necessitating tube feeding. Many patients die in the first years of life (summary by Perenthaler et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618744) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 83, is also known as epileptic encephalopathy, early infantile, 83. An important gene associated with Developmental and Epileptic Encephalopathy 83 is UGP2 (UDP-Glucose Pyrophosphorylase 2). Affiliated tissues include brain and eye, and related phenotypes are spasticity and hyperreflexia

Disease Ontology : ¹² A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has material basis in homozygous or compound heterozygous mutation in UGP2 on chromosome 2p15.

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 83: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE83 is an autosomal recessive form characterized by onset of frequent, intractable seizures in the first days to months of life. Affected individuals have profound developmental delay with no motor or language skill acquisition, and poor or absent visual tracking. Many patients die in the first years of life.

Clinical features from OMIM®:

618744 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 83

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 83.