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. 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.
List of variants in gene DENND5A studied for Inborn genetic …
WebTarget Information. DENND5A (DENN domain-containing protein 5A) is a guanine nucleotide exchange factor (GEF) which activates RAB6A and RAB39A/RAB39B. It promotes the exchange of GDP to GTP by converting inactive GDP-bound Rab proteins to their active GTP form. DENND5A is also involved in the negative regulation of neurtie … WebFeb 22, 2024 · This website provides information on patients with mutations in the DENND5A gene, including clinical data, molecular data, management and research options. The syndrome caused by mutations in the DENND5A gene is a rare developmental disorder characterized by global developmental delay, seizures, enlarged ventricles in … dnr castle rock
Epileptic encephalopathy linked to protein trafficking gene
WebJul 23, 2024 · WES was able to provide a diagnosis of rare Mendelian disorders in each family. DENND5A, located at 11p15.4, plays a role in the regulation of membrane traffic between Golgi and endosomal complex. ... The clinical findings of both siblings were consistent with DENND5A-related epileptic encephalopathy. As reported in the … 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. ... WebThere are 5,492 search results, but Export to Excel supports up to 25,000. dnrc flood maps