Ataxia and cerebellar hypoexcitability in a mouse model of SCN1B-linked Dravet syndrome.

ABSTRACT: Patients with Dravet syndrome (DS) present with severe, spontaneous seizures and ataxia. While most patients with DS have variants in the sodium channel Nav1.1 α subunit gene, SCN1A, variants in the sodium channel β1 subunit gene, SCN1B, are also linked to DS. Scn1b null mice model DS, with spontaneous generalized seizures that start in the second week of life. In Scn1b null cerebellum, neuronal pathfinding is severely altered, and Purkinje cells (PCs) and granule neurons have altered excitability. Here, we show that Scn1b null mice are ataxic. Expression of β1 protein in WT cerebellum, assessed using a CRISPR transgenic mouse model containing an in-frame V5 epitope tag at the β1 C-terminus, is widespread. Scn1b null PCs and interneurons in cerebellar slices have increased thresholds for a

SUBMITTER: Yuan Y 

PROVIDER: S-EPMC12487675 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature