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Reid ES, Williams H, Stabej Ple Q, et al. Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6. JIMD Rep. 2015;27:79-84doi: 10.1007/8904_2015_460.
Reid, E. S., Williams, H., Stabej, P. l. e. . Q., James, C., Ocaka, L., Bacchelli, C., Footitt, E. J., Boyd, S., Cleary, M. A., Mills, P. B., & Clayton, P. T. (2016). Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6. JIMD reports, 2779-84. https://doi.org/10.1007/8904_2015_460
Reid, Emma S, et al. "Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6." JIMD reports vol. 27 (2016): 79-84. doi: https://doi.org/10.1007/8904_2015_460
Reid ES, Williams H, Stabej Ple Q, James C, Ocaka L, Bacchelli C, Footitt EJ, Boyd S, Cleary MA, Mills PB, Clayton PT. Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6. JIMD Rep. 2016;27:79-84. doi: 10.1007/8904_2015_460. Epub 2015 Oct 08. PMID: 26446091; PMCID: PMC5580730.
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JIMD Rep. 2016;27:79-84. doi: 10.1007/8904_2015_460. Epub 2015 Oct 08.

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

JIMD reports

Emma S Reid, Hywel Williams, Polona Le Quesne Stabej, Chela James, Louise Ocaka, Chiara Bacchelli, Emma J Footitt, Stewart Boyd, Maureen A Cleary, Philippa B Mills, Peter T Clayton

Affiliations

  1. Centre for Translational Omics, Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK, WC1N 1EH.
  2. Metabolic Medicine Department, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, UK, WC1N 3JH.
  3. Electrophysiology Department, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, UK, WC1N 3JH.
  4. Centre for Translational Omics, Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK, WC1N 1EH. [email protected].

PMID: 26446091 PMCID: PMC5580730 DOI: 10.1007/8904_2015_460

Abstract

There is increasing evidence that vitamin B6, given either as pyridoxine or pyridoxal 5'-phosphate, can sometimes result in improved seizure control in idiopathic epilepsy. Whole-exome sequencing was used to identify a de novo mutation (c.629G>A; p.Arg210His) in KCNQ2 in a 7-year-old patient whose neonatal seizures showed a response to pyridoxine and who had a high plasma to CSF pyridoxal 5'-phosphate ratio, usually indicative of an inborn error of vitamin B6 metabolism. This mutation has been described in three other patients with neonatal epileptic encephalopathy. A review of the literature was performed to assess the effectiveness of vitamin B6 treatment in patients with a KCNQ2 channelopathy. Twenty-three patients have been reported to have been trialled with B6; in three of which B6 treatment was used alone or in combination with other antiepileptic drugs to control seizures. The anticonvulsant effect of B6 vitamers may be propagated by multiple mechanisms including direct antagonist action on ion channels, antioxidant action on excess reactive oxygen species generated by increased neuronal firing and replenishing the pool of pyridoxal 5'-phosphate needed for the synthesis of some inhibitory neurotransmitters. Vitamin B6 may be a promising adjunctive treatment for patients with channelopathies and the wider epileptic population. This report also demonstrates that an abnormal plasma to CSF pyridoxal 5'-phosphate ratio may not be exclusive to inborn errors of vitamin B6 metabolism.

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