Developmental and Epileptic Encephalopathy 43 (DEE43)

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Disease Ontology 12 DOID:0080447 OMIM® 57 617113 OMIM Phenotypic Series 57 PS308350

MeSH 44 D013036 MedGen 41 C4310712 CN238499 SNOMED-CT via HPO 68 128613002 224958001 228156007 246545002 247578003 263681008 313307000 44548000 84757009 85102008 91138005 91175000 9748009 more

OMIM® : ⁵⁷ Developmental and epileptic encephalopathy-43 (DEE43) is a neurologic disorder characterized by the onset of various types of seizures usually in the first year of life. The age at onset is highly variable, ranging from the neonatal period to about 12 months of age. Later onset may rarely occur. Seizure types include febrile, infantile spasms, focal, tonic-clonic, and myoclonic; they tend to be refractory to treatment. Affected individuals show global developmental delay with mild to moderate intellectual disability, although some may have normal early development before the onset of seizures. EEG shows focal, multifocal, or generalized sharp waves associated with seizures, sometimes with hypsarrhythmia. Additional more variable features include tube feeding, hypotonia, peripheral hypertonia, ataxia, dyskinesia, and behavioral difficulties, including aggression, ADHD, stereotypic, and impulsive behavior (summary by the Epi4K Consortium, 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617113) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 43, is also known as epileptic encephalopathy, early infantile, 43. An important gene associated with Developmental and Epileptic Encephalopathy 43 is GABRB3 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3). Affiliated tissues include brain, and related phenotypes are intellectual disability and ataxia

Disease Ontology : ¹² A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has material basis in heterozygous mutation in the GABRB3 gene on chromosome 15q11.

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 43: 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. EIEE43 inheritance is autosomal dominant.

Clinical features from OMIM®:

617113 (Updated 05-Mar-2021)

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Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 43.