IndraLab

Statements

DHPS binds SCN1A. 10 / 10
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"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
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"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
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"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
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"Depienne et al. detected that PCDH19 played an essential role in infantile epileptic encephalopathies, with a clinical spectrum overlapping that of SCN1A-DS [ xref ]."
40097380
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"These genes were SCN5A , known to cause LQT3 (via gain of function) and Brugada syndrome (BrS; via loss of function), and SCN1A, which is associated with DS, familial hemiplegic migraine and genetic epilepsy with febrile seizures."
31865891
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"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
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"Although the clinical characteristics caused by other genes are slightly different from classical SCN1A-DS, they represent potential inherited pathogenic factors."
40097380
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"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
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"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
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"Statistically significant disparities emerged between the SCN1A-DS and SCN1A-GEFS+ groups concerning seizure onset and genetic diagnosis age, incidence of status epilepticus, mental retardation, anti-seizure medication (ASM) responsiveness, and familial history."
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