IndraLab

Statements

SCN1A binds DHPS. 6 / 6
| 6
sparser
"The increase in lifespan and seizure thresholds is consistent with our previous results examining the interactions between theScn8a medjo and GEFS+ or DS Scn1a mutants ( xref ; xref )."
26410685
sparser
"Phenotypically, early infantile SCN1A encephalopathy is associated with more profound developmental impairments than DS; all patients included in the study were nonambulatory, and the majority required feeding tubes."
31257984
sparser
"Furthermore, the mutation of SCN1A that is associated with DS is characterized by a 5-fold increase in expression of a PE, which results in a 50% reduction of Scn1a mRNA and NA v 1.1 protein levels ( xref )."
34899861
sparser
"To summarize, there is a strong association of SCN1A mutations with DS, and the evidence suggests a relationship between the location and type of SCN1A mutation and the severity of the epilepsy phenotype."
22341965
sparser
"Previous studies of several SCN1A mutants associated with GEFS+ and DS ( xref , xref , xref ) showed increased persistent current which may be a contributing factor to the complex epileptic phenotypes."
21864321
sparser
"The primary defect in DS associated with SCN1A mutations is loss of Na V 1.1 function owing to truncating mutations, non-truncating alleles that confer impaired trafficking, or other potential mechanisms."
24434335