Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans

@article{Nakayama2002FailureTF,
  title={Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans},
  author={Junko Nakayama and Naomasa Yamamoto and Kenzo Hamano and Nobuaki Iwasaki and Masayasu Ohta and Satoko Nakahara and Yumi Horigome and Chieko Nakahara and Emiko Noguchi and Junko Shiono and Yae Shimakura and Kimiko Yamakawa‐Kobayashi and Akira Matsui and Tadao Arinami},
  journal={Neuroscience Letters},
  year={2002},
  volume={329},
  pages={249-251}
}
The voltage-gated sodium channel type II alpha polypeptide gene (SCN2A) R188W mutation with channel dysfunction was recently identified in a patient with febrile and afebrile seizures. A possible association between SCN2A R19K polymorphism and febrile seizures (FS) associated with afebrile seizures including generalized epilepsy with febrile seizures plus (GEFS+) was also noted. We attempted to identify the R188W mutation and confirm association of the R19K polymorphism in 93 Japanese patients… Expand
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TLDR
A mutation resulting in an amino acid exchange (R187W) in the gene encoding the α-subunit of neuronal voltage-gated Na+ channel type II (Nav1.2) in a patient with FS associated with afebrile seizures is reported and the R187W mutation is proposed as the genetic defect responsible for febrile epileptic seizures. Expand
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