Developmental and Epileptic Encephalopathy 29 (DEE29)

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Disease Ontology 12 DOID:0080451 OMIM® 57 616339 OMIM Phenotypic Series 57 PS308350

MeSH 44 D013036 MedGen 41 C4225361 CN230131 SNOMED-CT via HPO 68 111007000 128613002 157265008 199612005 22033007 221360009 224958001 237836003 246545002 258211005 271611007 271700006 278849000 302226006 313307000 349006 36440009 37280007 386033004 397790002 418143002 42658009 432788009 52522001 563001 59026006 81308009 84757009 91175000 more

OMIM® : ⁵⁷ Developmental and epileptic encephalopathy-29 (DEE29) is an autosomal recessive neurologic disorder characterized by the onset of refractory myoclonic seizures in the first months of life. Affected individuals have poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation (summary by Simons et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (616339) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 29, also known as epileptic encephalopathy, early infantile, 29, is related to deafness, autosomal recessive 89 and charcot-marie-tooth disease, axonal, type 2i. An important gene associated with Developmental and Epileptic Encephalopathy 29 is AARS1 (Alanyl-TRNA Synthetase 1), and among its related pathways/superpathways are Gene Expression and tRNA Aminoacylation. Related phenotypes are spasticity and failure to thrive

Disease Ontology : ¹² A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has material basis in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22.

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 29: 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. EIEE29 patients manifest severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination.

Clinical features from OMIM®:

616339 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 29

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 29.