ArticleJIMD reports2016
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.
Article in JIMD reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 27 citations in OpenAlex.
- Pyridoxine-dependent epilepsy: Current perspectives and questions for future research.Annals of the Child Neurology Society · 2023Article
- Article
- A Case of Early Infantile Epileptic Encephalopathy Due to KCNQ2 Gene Mutation Presenting With Episodes of Hiccups.Cureus · 2022Article
- Pyridoxine-responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review.Molecular genetics & genomic medicine · 2022Review
- KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review.Frontiers in neurology · 2022Article
- Approach to Neurological Channelopathies and Neurometabolic Disorders in Newborns.Life (Basel, Switzerland) · 2021Review
- Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.The Journal of clinical endocrinology and metabolism · 2019Article
- Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.Human molecular genetics · 2019Article
- KCNQ2 related early-onset epileptic encephalopathies in Chinese children.Journal of neurology · 2019Article
- Review
- Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.Journal of inherited metabolic disease · 2017Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
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