WebMar 21, 2024 · DENND5A (DENN Domain Containing 5A) is a Protein Coding gene. Diseases associated with DENND5A include Developmental And Epileptic … WebAutism spectrum disorder; Epilepsy; Autism spectrum disorder; Epilepsy; Intellectual disability; Autism spectrum disorder; Neurodevelopmental disorder; Somatosensory seizure; Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome; Autosomal dominant epilepsy with auditory features; Autosomal dominant nocturnal frontal lobe ...
List of variants in gene DENND5A reported as likely pathogenic for ...
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. Epilepsy affects approximately three per cent of the world population, and epileptic encephalopathy is a rare sub-form of the disease. 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 … takhlakh lake weather
Gene discovered to cause rare, severe neurological disease
WebIMPC related publications The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dennd5a. No publications found that use IMPC mice or data for Dennd5a. ... WebNM_015213. 4 (DENND5A): c. 739G>A (p. Val247Ile) NM_015213. 4 (DENND5A): c. 77C>T (p. Thr26Met) The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this ... 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 ... twitchrp server