IndraLab

Statements

Mutated SCN1A activates DHPS. 11 / 11
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"DS, which is mainly caused by the SCN1A mutation gene, is the best model for studying the SCN1A gene (107)."
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"DS is most frequently caused by various mutations of the SCN1A gene encoding the subunit 1 of the neuronal voltage gated sodium channel [XREF_BIBR]."
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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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"In addition to gene mutations of SCN1A that can cause DS, other genes include PCDH19, SCN2A, SCN8A, SCN1B, GABRA1, GABRG2, GABRB3, STXBP1, HCN1, CHD2, and KCNA2 can also cause DS or DS-like phenotypes (4)."
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"Dravet syndrome is most frequently caused by various mutations of the SCN1A gene encoding the type 1 subunit of the neuronal voltage gated sodium channel."
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"XREF_BIBR reported in 2001 that SCN1A mutations caused DS, it has been found that 70-80% of DS cases are caused by mutations in SCN1A."
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"In a cohort of 10 adult patients with DS caused by SCN1A mutations, we investigated seizure frequency, history of cSE, and gait."
22780858
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"Dravet syndrome (DS) is caused by dominant mutations of the SCN1A gene, encoding the NaV 1.1 sodium channel alpha subunit."
23663038
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"Ser487GlufsTer6) adds to the spectrum of SCN1A mutations causing DS."
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"Dravet syndrome (DS), a devastating epileptic encephalopathy, is mostly caused by mutations of the SCN1A gene, coding for the voltage gated Na (+) channel Na (V) 1.1 alpha subunit."
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"SCN1A Mutations cause DS."
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