The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.

@article{Brunklaus2013TheCU,
  title={The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.},
  author={Andreas Brunklaus and Liam Dorris and Rachael Ellis and Eleanor Reavey and Elizabeth Lee and Gordon Forbes and Richard Appleton and J. Helen Cross and Colin D. Ferrie and Imelda Hughes and Alice Jollands and Mary D. King and John Livingston and Bryan Lynch and Sunny Philip and Ingrid E. Scheffer and Ruth R. E. Williams and Sameer M Zuberi},
  journal={Developmental medicine and child neurology},
  year={2013},
  volume={55 2},
  pages={
          154-61
        }
}
AIM Genetic testing in the epilepsies is becoming an increasingly accessible clinical tool. Mutations in the sodium channel alpha 1 subunit (SCN1A) gene are most notably associated with Dravet syndrome. This is the first study to assess the impact of SCN1A testing on patient management from both carer and physician perspectives. METHOD Participants were identified prospectively from referrals to the Epilepsy Genetics Service in Glasgow and contacted via their referring clinicians… CONTINUE READING

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Early-Life Epilepsies and the Emerging Role of Genetic Testing.

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