IndraLab

Statements

Mutated SCN1A activates GEFS+. 2 / 2
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"Careful analysis of the spatial and temporal distribution of Na v 1.1, its splice isoforms and its regulation will be necessary to better understand how SCN1A mutations lead to GEFS+."
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"Furthermore, patients with DS often have comorbid abnormalities, including motor dysfunction, social deficits, and cognitive impairment.22, 23, 24 SCN1A mutations also lead to GEFS+, which is an inherited disorder characterized by FSs that persist beyond early childhood and the development of adult epilepsy.25, 26 We and others have shown that mice with Scn1a mutations recapitulate many clinical features, including the development of spontaneous seizures.27, 28 In the current study, we evaluated the therapeutic potential of donepezil in a mouse model of DS."
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