Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

@article{Horvath2016SecondaryND,
  title={Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?},
  author={Gabriella A Horvath and Michelle Demos and Casper Shyr and Allison L Matthews and Linhua Zhang and Simone Race and Sylvia G Stockler-Ipsiroglu and Margot I. Van Allen and B. Ogan Mancarci and Lilah Toker and Paul Pavlidis and Colin J Ross and Wyeth W. Wasserman and Natalie Trump and Simon J. R. Heales and Simon Pope and J. Helen Cross and Clara D M van Karnebeek},
  journal={Molecular genetics and metabolism},
  year={2016},
  volume={117 1},
  pages={
          42-8
        }
}
We describe neurotransmitter abnormalities in two patients with drug-resistant epilepsy resulting from deleterious de novo mutations in sodium channel genes. Whole exome sequencing identified a de novo SCN2A splice-site mutation (c.2379+1G>A, p.Glu717Gly.fs*30) resulting in deletion of exon 14, in a 10-year old male with early onset global developmental delay, intermittent ataxia, autism, hypotonia, epileptic encephalopathy and cerebral/cerebellar atrophy. In the cerebrospinal fluid both… CONTINUE READING
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