Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

@article{Wallace2003SodiumCA,
  title={Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.},
  author={Robyn H. Wallace and Bree L Hodgson and Bronwyn E Grinton and R. Mark Gardiner and Rachel A Robinson and Victoria Rodriguez-Casero and Lynette Grant Sadleir and Jubel F Morgan and Louise A. Harkin and Leanne M. Dibbens and Tatsuya Yamamoto and Eva Andermann and John C. Mulley and Samuel F. Berkovic and Ingrid E. Scheffer},
  journal={Neurology},
  year={2003},
  volume={61 6},
  pages={765-9}
}
BACKGROUND Mutations in SCN1A, the gene encoding the alpha1 subunit of the sodium channel, have been found in severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). Mutations in SMEI include missense, nonsense, and frameshift mutations more commonly arising de novo in affected patients. This finding is difficult to reconcile with the family history of GEFS+ in a significant proportion of patients with SMEI. Infantile spasms (IS), or West… CONTINUE READING

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