Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
74915c.2836C>Tp.Arg946CysDIIS5-S6MissenseP/﹢→N (180); LOF SMEIDe novoFukuma G.2004
SMEBNAFukuma G.2004
SMEI2De novoZuberi SM.2011
SMEIDe novoVolkers L.2011
SMEIDe novoWang JW.2012
SMEBNAWang JW.2012
SMENAXu X.2014
SMENALee HF.2014
Epilepsy and/or NDDNALindy AS.2018

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
19c.2836C>Tp.Arg946Cys(R946C)DIIS5-S6SMEI LOF No measurable sodium current.Volkers L.2011

[c.2836C>T] Clinical description

The R946C mutation was detected in a girl diagnosed with DS. She experienced her first seizure at age of 10 months, after a vaccination against DTwcP-IPV and Hib. The majority of her seizures were fever provoked GTCS. Valproate monotherapy controlled her seizure frequency to twice a year. She showed ataxia and a moderate developmental delay. Her IQ was 60 at the age of 5.5 years(Volkers L,et al. Eur J Neurosci. 2011 Oct;34(8): 1268-75. [21864321]).