IndraLab

Statements

Mutated SCN1A activates DHPS. 14 / 14
| 14
reach
"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)."
35002916
reach
"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."
27021235
reach
"Scn1a mutations alter the Na α1 subunit (Na 1.1) and Na 1.1 haploinsufficiency can cause Dravet Syndrome (DS)."
36686527
reach
"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."
22150645
reach
"SCN1A Mutations cause DS."
22341965
reach
"Scn1a mutations and seizures may interact to increase the severity of the DS phenotype (53)."
35165147
reach
"In a cohort of 10 adult patients with DS caused by SCN1A mutations, we investigated seizure frequency, history of cSE, and gait."
22780858
reach
"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]."
27021235
reach
"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."
28079314
reach
"DS, which is mainly caused by the SCN1A mutation gene, is the best model for studying the SCN1A gene (107)."
35002916
reach
"36 Although there was no direct evidence suggesting the metabolic dysfunction in genetic epilepsies, some researchers have suggested that metabolism and mitochondrial defects contributing to seizure susceptibility or progression in Dravet syndrome (DS) caused by SCN1A mutations and the ketogenic diet (KD) seemed to be an effective treatment for the patients."
38357846
reach
"Previous studies have shown that truncated mutations of SCN1A cause DS, the severest phenotype in genetic epilepsy due to sodium channel defects."
26311622
reach
"Dravet syndrome (DS) is caused by dominant mutations of the SCN1A gene, encoding the NaV 1.1 sodium channel alpha subunit."
23663038
reach
"Ser487GlufsTer6) adds to the spectrum of SCN1A mutations causing DS."
27021235