PPFIA4 mutation: A second hit in POLG related disease?

Epilepsy in POLG related disease usually involves biallelic recessive mutations causing chronic neuronal loss and neuronal death. However, monoallelic POLG mutations have been reported in patients with neurological features such as seizures [1]. In these patients a second allele/gene was anticipated...

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Bibliografiske detaljer
Udgivet i:Epilepsy Behav Rep
Main Authors: Sourbron, Jo, Jansen, Katrien, Aerts, Nele, Lagae, Lieven
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2021
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8164014/
https://ncbi.nlm.nih.gov/pubmed/34095804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebr.2021.100455
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