IndraLab

Statements

DHPS binds SCN1A. 14 / 14
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"There are only a few adult cases with detailed neuropathological examination reported in the literature. xref Here, we present neuropathological findings of a new patient with classic SCN1A‐DS who died at the age of 55 years."
40956029
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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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"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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"The SCN1A-related Dravet syndrome (SCN1A-DS) subgroup (n = 12) had a responder rate (50.0%) comparable to that of the non-SCN1A-DS ME group (43.7%) at the last follow-up."
41569727
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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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"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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"Increasing accessibility of genetic testing has meant that more adults are diagnosed with DS due to SCN1A pathogenic variants (SCN1A‐DS), thereby increasing the chances of improved understanding of aging within a molecularly defined group."
40956029
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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 neuropathological findings of this 55‐year‐old patient with SCN1A‐DS showed an extraordinary burden and widespread distribution of CA as well as widespread p62‐positive neuritic profiles in the limbic gray matter and lobar and limbic white matter with accentuated TMEM106 immunoreactive pericellular deposits in the temporal cortex."
40956029
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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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