ArticleSeizure2010
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.
Article in Seizure, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 140 citations in OpenAlex.
- [Selection of pharmacogenomic variants and methodology for their use in community pharmacy].Farmaceuticos comunitarios · 2024Pooled it
- The role of pharmacogenomics in epilepsy treatment: advancements in personalized medicine.The pharmacogenomics journal · 2026Review
- POLG epilepsy presenting as new-onset refractory status epilepticus (NORSE) in pregnancy.Practical neurology · 2025Article
- [Pharmaceutical Indication Service in a case of palmar-plantar erythema after amoxicillin and ibuprofen treatment].Farmaceuticos comunitarios · 2024Article
- Article
- Risk Assessment of Psychotropic Drugs on Mitochondrial Function Using In Vitro Assays.Biomedicines · 2023Article
- GAD65 Antibody-Associated Epilepsy.Medicina (Kaunas, Lithuania) · 2023Review
- A new pathogenic POLG variant.Molecular genetics and metabolism reports · 2022Article
- Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.Epilepsia · 2022Article
- Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.Molecular genetics & genomic medicine · 2022Article
- Clinical Diagnosis and Treatment of Leigh Syndrome Based onAntioxidants (Basel, Switzerland) · 2021Review
- Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment.Children (Basel, Switzerland) · 2021Review
- DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.Nucleic acids research · 2021Article
- Valproic Acid-Induced Liver Injury: A Case-Control Study from a Prospective Pharmacovigilance Program in a Tertiary Hospital.Journal of clinical medicine · 2021Article
- Elucidating the Potential Side Effects of Current Anti-Seizure Drugs for Epilepsy.Current neuropharmacology · 2021Review
- Genetic or Autoimmune: POLG-Related Epilepsy Initially Treated as an Autoimmune Encephalitis, a Case Report.The Neurohospitalist · 2021Article
- Impact of predictive, preventive and precision medicine strategies in epilepsy.Nature reviews. Neurology · 2020Review
- POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.Brain sciences · 2020Review
- The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders.AJNR. American journal of neuroradiology · 2020Article
- Mitochondrial diseases: expanding the diagnosis in the era of genetic testing.Journal of translational genetics and genomics · 2020Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
Abstract
purposeTo review our clinical experience and determine if there are appropriate signs and symptoms to consider POLG sequencing prior to valproic acid (VPA) dosing in patients with seizures.
methodsFour patients who developed VPA-induced hepatotoxicity were examined for POLG sequence variations. A subsequent chart review was used to describe clinical course prior to and after VPA dosing.
resultsFour patients of multiple different ethnicities, age 3-18 years, developed VPA-induced hepatotoxicity. All were given VPA due to intractable partial seizures. Three of the patients had developed epilepsia partialis continua. The time from VPA exposure to liver failure was between 2 and 3 months. Liver failure was reversible in one patient. Molecular studies revealed homozygous p.R597W or p.A467T mutations in two patients. The other two patients showed compound heterozygous mutations, p.A467T/p.Q68X and p.L83P/p.G888S. Clinical findings and POLG mutations were diagnostic of Alpers-Huttenlocher syndrome.
conclusionOur cases underscore several important findings: POLG mutations have been observed in every ethnic group studied to date; early predominance of epileptiform discharges over the occipital region is common in POLG-induced epilepsy; the EEG and MRI findings varying between patients and stages of the disease; and VPA dosing at any stage of Alpers-Huttenlocher syndrome can precipitate liver failure. Our data support an emerging proposal that POLG gene testing should be considered in any child or adolescent who presents or develops intractable seizures with or without status epilepticus or epilepsia partialis continua, particularly when there is a history of psychomotor regression.
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Registered trials
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