Developmental and Epileptic Encephalopathy 38 (DEE38)

External Ids:

Disease Ontology 12 DOID:0080417 OMIM® 57 617020 OMIM Phenotypic Series 57 PS308350

MeSH 44 D013036 MedGen 41 C4310762 CN237399 SNOMED-CT via HPO 68 224958001 230456007 258211005 31216003 314407005 41581000 56731001 85102008 more

OMIM® : ⁵⁷ Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur. The disorder is associated with a defect in GPI-anchoring of membrane-bound proteins (summary by Palmer et al., 2016; Davids et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (617020) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 38, is also known as epileptic encephalopathy, early infantile, 38. An important gene associated with Developmental and Epileptic Encephalopathy 38 is ARV1 (ARV1 Homolog, Fatty Acid Homeostasis Modulator). Affiliated tissues include eye, bone and brain, and related phenotypes are retinal dystrophy and ataxia

Disease Ontology : ¹² A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has material basis in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 38: 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. EIEE38 inheritance is autosomal recessive.

Clinical features from OMIM®:

617020 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 38

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 38.