Article
When should clinicians order genetic testing for Dravet syndrome?
Pediatric neurology - 1 Nov 2011
Fountain-Capal Jamie K, Holland Katherine D, Gilbert Donald L, Hallinan Barbara E
Abstract excerpt
The role of neuronal voltage-gated sodium channel, α-1 subunit (SCN1A) gene mutations in Dravet syndrome is well-established. With a broader phenotype than initially described, some patients lack features of Dravet syndrome as defined by the International League Against Epilepsy. We evaluated the predictive value of International League Against Epilepsy criteria for a positive mutation in a cohort of...
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