IndraLab

Statements

SCN1A activates SMEI. 3 / 3
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"SMEI is caused by mutations in SCN1A encoding Na v 1.1."
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"A redefinition of Dravet syndrome, in view of the genetic origin, may then be possible.In our first publication [4], we speculated that SMEI was only caused by truncating mutations in SCN1A."
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"We speculate that this mutation likely promotes seizure susceptibility and worsens the SMEI phenotype caused primarily by the SCN1A mutation.SCN1A is expressed in GABAergic interneurons, haploinsuffic[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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