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Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia

Lookup NU author(s): Dr Yi NgORCiD, Emeritus Professor Doug Turnbull, Professor Robert Taylor



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Mitochondrial disease is phenotypically and genetically heterogeneous with an estimated prevalence of 1 in 4,300.1 Mutations in the POLG gene, encoding the catalytic subunit of DNA polymerase gamma, are an important cause of mitochondrial disease. The spectrum of clinical manifestations in POLG-related mitochondrial disease is variable,2 with disease onset ranging from adulthood-onset dominant or recessive progressive external ophthalmoplegia (chronic progressive external ophthalmoplegia), ataxia-neuropathy spectrum, myoclonic epilepsy, myopathy, and sensory ataxia to childhood-onset Alpers syndrome, which is characterized by intractable seizures, psychomotor regression, and hepatic impairment. Epilepsy is a poor prognostic factor in POLG mutations,3 and the onset of epilepsy often clusters in childhood (<5 years) and teenage.4 However, late-onset epileptic encephalopathy is uncommon.4,5 Herein, we describe a patient who died of de novo, late-onset refractory status epilepticus with the identification of 2 novel variants in the POLG gene.

Publication metadata

Author(s): Ng YS, Powell H, Hoggard N, Turnbull DM, Taylor RW, Hadjivassiliou M

Publication type: Article

Publication status: Published

Journal: Neurology Genetics

Year: 2017

Volume: 3

Issue: 5

Online publication date: 09/08/2017

Acceptance date: 30/06/2017

Date deposited: 27/11/2017

ISSN (electronic): 2376-7839

Publisher: Wolters Kluwer Health


DOI: 10.1212/NXG.0000000000000181


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Funder referenceFunder name
203105/Z/16/ZWellcome Trust