Article

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

2019-10-10

Abstract excerpt

Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early onset, therapy resistant seizures and developmental delay. Here we report on 12 individuals from 10 families presenting with a severe form of intractable epilepsy, severe developmental delay, progressive microcephaly and visual disturbance. Whole exome sequencing identified a recurrent, homozygou...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 8474da83-0283-5781-9b51-6bd49fee4eb8
DOI: 10.1101/799841

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseasesDOI 10.1101/799841Read

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.Semantic proximity Read

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.Semantic proximity Read

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.Semantic proximity Read

Cerebral Cortical-Like Organoid Model of PPP2R5D Induced Genetic Intellectual Disability Displays Variant-Specific Disease Severity PhenotypeSemantic proximity Read

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in <i>C2orf69</i>Semantic proximity Read

Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene.Semantic proximity Read

A hemizygous GYG2 mutation and Leigh syndrome: a possible link?Semantic proximity Read

Biallelic variants in <i>RNU2-2</i> cause a remarkably frequent developmental epileptic encephalopathySemantic proximity Read

Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IXSemantic proximity Read

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.Semantic proximity Read

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.Semantic proximity Read

A novel de novo splicing mutation of STXBP1 in epileptic encephalopathy associated with hypomyelinating leukodystrophySemantic proximity Read