IndraLab

Statements

DHPS activates mutated SCN1A. 5 / 5
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"More than 80% of DS cases are caused by de novo heterozygous mutations of SCN1A."
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"However, despite these promising advances full seizure control and improved QOL remains an unmet medical need for most DS patients.In over 80% of cases, DS is caused by de novo heterozygous SCN1A mutations resulting in haploinsufficiency."
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"6 It has been suggested that DS causing SCN1A mutations reduce the activity of cortical inhibitory networks, with the resultant imbalance of neuronal activity leading to seizures."
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"However, the full extent of these abnormalities, their associations with the DS causing SCN1A mutations, and their underlying mechanisms are not fully understood."
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"Previous studies have shown that truncated mutations of SCN1A cause DS, the severest phenotype in genetic epilepsy due to sodium channel defects."
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