Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B(6)

There is increasing evidence that vitamin B(6), 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 wh...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Reid, Emma S., Williams, Hywel, Stabej, Polona Le Quesne, James, Chela, Ocaka, Louise, Bacchelli, Chiara, Footitt, Emma J., Boyd, Stewart, Cleary, Maureen A., Mills, Philippa B., Clayton, Peter T.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5580730/
https://ncbi.nlm.nih.gov/pubmed/26446091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_460
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