IndraLab

Statements

SCN1A inhibits DHPS. 6 / 6
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"DS is caused by heterozygous loss-of- function mutations in the SCN1A gene, which encodes the pore forming alpha subunit of the voltage gated sodium channel Nav1.1."
28244991
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"Our data present a case of Dravet syndrome caused by a novel heterozygous SCN1A deletion (c. 1458_1465delCTCTAAGT) in two affected siblings."
27021235
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"DS is caused by heterozygous loss-of-function mutations in the SCN1A gene 7, which encodes the pore forming alpha-subunit of the brain voltage gated sodium channel type-1 (Na V 1.1) 8."
22914087
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"Recent studies indicate that conditional activation of Scn1a in adult mice can reverse DS symptoms (11)."
37192002
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"Loss of Nav1.1 channel with conditional deletion of SCN1A in forebrain GABAergic neurons is both necessary and sufficient to cause epilepsy and premature death in DS."
34992485
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"Currently, there are no publications available investigating the effect of a ketogenic diet on Tic disorders or Tourette syndrome.A review concluded that for the treatment of DS, which is often caused by loss-of-function mutations in SCN1A, valproate and benzodiazepines should be the first-line treatment but are often insufficient."
30071822