IndraLab

Statements

DHPS activates SCN1A. 5 / 5
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"The majority of DS cases are caused by heterozygous de novo mutations in SCN1A resulting in truncation of the protein, with haploinsufficiency of Na 1.1 presumed to underlie pathology [18, 19]."
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"The Drosophila para gene is edited using CRISPR-cas9 to reproduce specific human DS causing mutations in SCN1A, whilst also introducing a marker mutation (e.g., eye color)."
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"More than 80% of DS cases are caused by de novo loss-of-function mutations in the SCN1A gene due to premature stop codons, deletions, or inactivating residue mutations (Claes et al., 2001, Dravet, 2011)."
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"As CRISPR technology was unavailable until recently, our initial drug program utilized an ENU-generated mutant for the voltage-activated sodium channel SCN1A that is associated with Dravet syndrome (DS), one of the most-severe forms of genetic epilepsy."
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"In most cases, DS is caused by de novo pathogenic variants in SCN1A, encoding the voltage-gated sodium channel (VGSC) Na 1.1 α subunit."
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