Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.

@article{Liao2010MolecularCO,
  title={Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.},
  author={Yunxiang Liao and Liesbet Deprez and Snezana Maljevic and Julika Pitsch and Lieve R. F. Claes and Dimitrina Hristova and Albena Jordanova and Sirpa Ala-Mello and Astrid Bellan-Koch and Dragica Blazevic and Simone J A Schubert and Evan A. Thomas and Steven Petrou and Albert J. Becker and Peter de Jonghe and Holger Lerche},
  journal={Brain : a journal of neurology},
  year={2010},
  volume={133 Pt 5},
  pages={1403-14}
}
Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life. Benign familial neonatal-infantile seizures are caused by mutations in the gene SCN2A encoding the voltage-gated Na(+) channel Na(V)1.2. We identified two novel SCN2A mutations… CONTINUE READING

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