POLG Novel Mutation with Alpers Syndrome

J Gordon Millichap

doi:10.15844/pedneurbriefs-26-2-5

POLG Novel Mutation with Alpers Syndrome

Pediatric Neurology Briefs

Volume 26 (2012): Issue 2

By: J Gordon Millichap

Open Access

|Feb 2012

Abstract

Researchers at University Hospital, Berne, Switzerland describe the molecular genetic analysis of POLG in a 3.5 years old boy with VPA-induced fatal liver failure and encephalopathy (Alpers-Huttenlocher syndrome, AHS).

References

Schaller A Hahn D Jackson CB Kern I Chardot C Belli DC Molecular and biochemical characterization of a novel mutation in POLG associated with Alpers syndrome BMC Neurol 2011 Jan 14 11 4 11 10.1186/1471-2377-11-4 21235791
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McFarland R Hudson G Taylor RW Green SH Hodges S McKiernan PJ Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1) Arch Dis Child 2008 Feb 93 2 151 153 10.1136/adc.2007.122911 18208989
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-26-2-5 | Journal eISSN: 2166-6482

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Language: English

Page range: 12 - 12

Published on: Feb 1, 2012

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

VPA-Induced Fatal Liver Failure,

POLG Mutations,

Alpers Syndrome

© 2012 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 26 (2012): Issue 2