SCN1A
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations
... Copyright © 2019 Saada Alame et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the ...
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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
... our SCN1A variant interpretations bene fit from the high concordance between perturbations to this gene and DS, as well as the fact that these are de novo ...
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Modeling NaV1.1/SCN1A sodium channel mutations in a microcircuit with realistic ion concentration dynamics suggests differential GABAergic mechanisms leading to hyperexcitability in epilepsy and migraine
... Abstract Loss of function mutations of SCN1A, the gene coding for the voltage-gated sodium channel Na V 1.1, cause different types of epilepsy, whereas gain of function mutations cause sporadic and familial ...
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Effect of seizures on the cognitive and behavioral phenotypes of mouse models carrying the Scn1a gene mutation : implications for Dravet Syndrome
... behavior, we observed that the Scn1a RH/+ had an impairment in social interaction after experiencing SIH. Both measures are associated to measures of the autistic- like spectrum (Berkvens et al., 2015). Again the ...
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Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
... of SCN1A [10]. We selected 19 index cases with DS who had an inherited SCN1A mutation based on molecular and/or familial arguments for further genetic investigations (Figure ...
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Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel.: self-limited hyperexcitability in a Nav1.1 migraine mutant
... al., 2004 α + / + De Fusco et al., 2003 consistently with reduced removal of K and glutamate from the extracellular space, thus with inhibition of recovery from neuronal + excitation, long lasting depolarizations and CSD ...
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