Epilepsy and premature mortality driven by inhibitory neuron dysfunction in a mouse model of SCN1A gain-of-function neurodevelopmental disorder
The gene most commonly implicated in epilepsy, SCN1A, encodes the neuronal voltage-gated sodium channel subunit NaV1.1. SCN1A variants that reduce sodium current (''loss of function'' variants) cause Dravet syndrome, a neurodevelopmental disorder defined by treatment-resistant temperature sensitive epilepsy with onset at/around 5 months of age, developmental delay/intellectual disability, and…
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