WebFunctional Associations. DENND5A has 3,510 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 68 datasets. Web112 rows · In 3 patients from 2 unrelated consanguineous families with DEE49, Han et al. (2016) identified homozygous frameshift mutations in the DENND5A gene (617278.0001 and 617278.0002).The mutations, which were found by whole-exome sequencing and …

National Center for Biotechnology Information

WebDec 1, 2016 · With a lifetime incidence of 3%, epilepsy is a common neurological disorder. Epileptic encephalopathies are a rare but devastating subform of epilepsies that often … WebAug 26, 2024 · Epileptic encephalopathies comprise a clinically and genetically heterogenous group of disorders characterized by global developmental delay and … furniture stores in sumter

DENND5A epileptic encephalopathy features global …

WebNov 28, 2016 · Disruption of DENND5A function leads to altered levels of these receptors, which could explain why loss of DENND5A leads to the severe neurological developmental defects in the patients. WebAutism spectrum disorder; Epilepsy; Autism spectrum disorder; Epilepsy; Intellectual disability; Autism spectrum disorder; Neurodevelopmental disorder; Somatosensory seizure; Autosomal dominant nocturnal frontal lobe epilepsy; Benign Rolandic epilepsy; Benign familial infantile seizures; Benign familial neonatal seizures; Benign familial ... Webthat both prolonged grief disorder and major depressive disorder should be diagnosed if criteria for both are met. V. Trauma and Stressor-Related Disorders V.A Prolonged Grief Disorder (Coding Update to ICD-10-CM Disorder Code) The ICD-10-CM code for Prolonged Grief Disorder (on DSM-5-TR Classification, the Disorder give and go locations