August 26, 2009Journal of NeuroscienceOpen Access

A Functional Null Mutation ofSCN1Bin a Patient with Dravet Syndrome

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Population

1 patient with Dravet syndrome with a homozygous SCN1B p.R125C mutation, and Scn1b(-/-) vs Scn1b(+/+) mice

Comparison

SCN1B p.R125C mutation / Scn1b knockout vs Wild type (Scn1b(+/+))

Design

Preclinical

Authors

Discussion

Supports SCN1B inactivation in Dravet syndrome; leaves open sodium current-independent excitability mechanisms.

Population

1 patient with Dravet syndrome with a homozygous SCN1B p.R125C mutation, and Scn1b(-/-) vs Scn1b(+/+) mice

Intervention

SCN1B p.R125C mutation / Scn1b knockout

Comparator

Wild type (Scn1b(+/+))

Outcome

Cell surface expression, action potential peak voltage and amplitude, sodium current density, and seizure susceptibilitysurrogate

SCN1B p.R125C is an autosomal recessive cause of Dravet syndrome through functional gene inactivation.

Patiño et al. (2009) studied this question.

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