Developmental and Epileptic Encephalopathy 48 (DEE48)

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Disease Ontology 12 DOID:0080448 OMIM® 57 617276 OMIM Phenotypic Series 57 PS308350

MeSH 44 D013036 MedGen 41 C4310637 CN239937 SNOMED-CT via HPO 68 204043002 224958001 230456007 258211005 271611007 278849000 28055006 28835009 412786000 418143002 52522001 95646004 9748009 more

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 48: A form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. EIEE48 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals manifest global developmental delay, intellectual disability, absent speech, and poor, if any, motor development.

MalaCards based summary : Developmental and Epileptic Encephalopathy 48, is also known as epileptic encephalopathy, early infantile, 48. An important gene associated with Developmental and Epileptic Encephalopathy 48 is AP3B2 (Adaptor Related Protein Complex 3 Subunit Beta 2). Affiliated tissues include eye, and related phenotypes are microcephaly and hypoplasia of the corpus callosum

Disease Ontology : ¹² A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has material basis in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.

OMIM® : ⁵⁷ Developmental and epileptic encephalopathy-48 (DEE48) is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech; poor, if any, motor development; and onset of seizures usually in the first year of life, although later onset has been reported. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by Assoum et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617276) (Updated 05-Mar-2021)

Clinical features from OMIM®:

617276 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 48

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 48.