IndraLab

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SCN1A inhibits DHPS. 5 / 5
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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."
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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."
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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."
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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."
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"Moreover, our results show that mutation of one allele of Scn1a also dramatically impairs sleep homeostasis in DS mice, as assessed from the large reduction in the rebound of slow wave activity after [MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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