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Magnesium treatment for patients with refractory status epilepticus due to POLG1-mutations
Mutations in the gene encoding of the catalytic subunit of mtDNA polymerase gamma (POLG1) can cause typical Alpers' syndrome. Recently, a new POLG1 mutation phenotype was described, the so-called juvenile-onset Alpers' syndrome. This POLG1 mutation phenotype is characterized by refractory...
Autores principales: | Visser, Nora A., Braun, Kees P. J., Leijten, Frans S. S., van Nieuwenhuizen, Onno, Wokke, John H. J., van den Bergh, Walter M. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Springer-Verlag
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036811/ https://www.ncbi.nlm.nih.gov/pubmed/20803213 http://dx.doi.org/10.1007/s00415-010-5721-2 |
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