Developmental and Epileptic Encephalopathy 31 (DEE31)

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Disease Ontology 12 DOID:0080437 OMIM® 57 616346 OMIM Phenotypic Series 57 PS308350

MeSH 44 D013036 MedGen 41 C4225357 CN230178 SNOMED-CT via HPO 68 128613002 224958001 228156007 228158008 246545002 247578003 248062006 263681008 278849000 28055006 282145008 313307000 418143002 52522001 609225004 84757009 91138005 91175000 more

OMIM® : ⁵⁷ Developmental and epileptic encephalopathy-31 (DEE31) is a neurologic disorder characterized by the global developmental delay apparent in early infancy. Most individuals have onset of various types of refractory seizures in the first months or years of life, which exacerbates the psychomotor deficits. Patients have hypotonia and profound intellectual disability with absent speech and inability to walk or ataxic gait. Some patients may have additional syndromic features, including dysmorphic features or cortical visual impairment (summary by the EuroEPINOMICS-RES Consortium et al., 2014 and Deciphering Developmental Disorders Study, 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (616346) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 31, also known as epileptic encephalopathy, early infantile, 31, is related to lennox-gastaut syndrome and early infantile epileptic encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 31 is DNM1 (Dynamin 1). Related phenotypes are self-injurious behavior and global developmental delay

Disease Ontology : ¹² A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has material basis in heterozygous mutation in the DNM1 gene on chromosome 9q34.

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 31: 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.

Clinical features from OMIM®:

616346 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 31

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 31.