Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy-Reference-Cited by-同舟云学术

Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy

Published:2018-09-26 Issue:11 Volume:59 Page:2125-2136
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Hynynen Johanna¹²³⁴,Pokka Tytti¹⁴,Komulainen-Ebrahim Jonna¹²³⁴,Myllynen Päivi⁵,Kärppä Mikko²⁶⁷,Pylvänen Laura⁶,Kälviäinen Reetta⁸⁹,Sokka Arja⁹¹⁰,Jyrkilä Aino⁹¹⁰,Lähdetie Jaana¹¹,Haataja Leena¹²,Mäkitalo Anna¹¹¹³,Ylikotila Pauli¹⁴¹⁵,Eriksson Kai¹⁶,Haapala Piia¹⁷,Ansakorpi Hanna²⁶⁷,Hinttala Reetta¹²³,Vieira Päivi¹²⁴,Majamaa Kari²⁶⁷,Rantala Heikki¹²⁴,Uusimaa Johanna¹²³⁴

Affiliation:

1. Research Unit for Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics, Obstetrics and Gynecology, Otorhinolaryngology and Ophthalmology; University of Oulu; Oulu Finland

2. Medical Research Center; Oulu University Hospital; Oulu Finland

3. Biocenter Oulu; University of Oulu; Oulu Finland

4. Department of Children and Adolescents; Division of Pediatric Neurology; Oulu University Hospital; Oulu Finland

5. Nordlab Oulu; Oulu University Hospital; Oulu Finland

6. Department of Neurology; Oulu University Hospital; Oulu Finland

7. Research Unit of Clinical Neuroscience, Neurology; University of Oulu; Oulu Finland

8. Department of Neurology; Kuopio University Hospital; Kuopio Finland

9. Institute of Clinical Medicine; School of Medicine; Faculty of Health Sciences; University of Eastern Finland; Kuopio Finland

10. Department of Pediatric Neurology; Kuopio University Hospital; Kuopio Finland

11. Department of Child Neurology; University of Turku and Turku University Central Hospital; Turku Finland

12. Department of Pediatric Neurology; Children’s Hospital; University of Helsinki and Helsinki University Hospital; Helsinki Finland

13. Department of Geriatric Medicine; University of Turku; Turku Finland

14. Department of Neurology; Institute of Clinical Medicine; University of Turku; Turku Finland

15. Division of Clinical Neurosciences; Turku University Hospital; Turku Finland

16. Tampere Center for Child Health Research and Pediatric Neurology; Tampere University Hospital; Tampere Finland

17. Outpatient Intellectual Disabilities Clinic; Tampere University Hospital; Tampere Finland

Funder

Special State Grants for Health Research in the Department of Pediatrics and Adolescence, Oulu University Hospital, Oulu, Finland

Arvo and Lea Ylppö Foundation

Orionin Tutkimussäätiö

Lastentautien Tutkimussäätiö

Academy of Finland

Epilepsy Research Foundation, Finland

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.14568/fullpdf

Reference38 articles.

1. DNA polymerase gamma, the mitochondrial replicase;Kaguni;Annu Rev Biochem,2004

2. DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations;Chan;Biochim Biophys Acta,2009

3. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions;Goethem;Nat Genet,2001

4. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations;Winterthun;Neurology,2005

5. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene;Horvath;Brain,2006

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