Article
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.
Developmental medicine and child neurology - 1 Feb 2013
Brunklaus Andreas, Dorris Liam, Ellis Rachael, Reavey Eleanor, Lee Elizabeth, Forbes Gordon, Appleton Richard, Cross J Helen, Ferrie Colin, Hughes Imelda, Jollands Alice, King Mary D, Livingston John, Lynch Bryan, Philip Sunny, Scheffer Ingrid E, Williams Ruth, Zuberi Sameer M
Abstract excerpt
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...
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