Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0085584 (
encephalopathy
)
18,178
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his parents. In the proband, we identified a homozygous missense variant in the
ubiquitin-like modifier activating enzyme 5
(
UBA5
) gene, encoding a protein involved in post-translational modifications. Functional analysis of the
UBA5
variant protein reveals that it is almost completely unable to perform its trans-thiolation activity. Although recessive variants in
UBA5
have recently been associated with epileptic
encephalopathy
, variants in this gene have never been reported to cause EME. Our results further demonstrate the importance of post-translational modifications such as the addition of an ubiquitin-fold modifier 1 (UFM1) to target proteins (ufmylation) for normal neuronal networks activity, and reveal that the dysfunction of the ubiquitous
UBA5
protein is a cause of EME.
...
PMID:Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst. 2966 68
