|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|1160||26||c.5555T>C||p.Met1852Thr||C-terminal||Missense||N→P/O(81); pLOF||SMEI||Familial(Paternal,FS+),P=5/5||Annesi G.2003|
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|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|51||c.5555T>C||p.Met1852Thr(M1852T)||C-terminal||SMEI f||pLOF||Reduced current density that could be partially rescued, with trafficking defect involved.||Rusconi R.2007|
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|Number||Nucleotide change||Protein change||Mutation type||Proband's phenotype||1st transmitter's phenotype||Mosaic||Affected generations||Penetrance||Reference|
|[c.5555T>C] Clinical description|
The mutation is a heterozygous point mutation, which was detected in both affected members of family, but not in their mother, who was unaffected. Notably, one of the affected members of this family is the one with SMEI. His sister, who carried the same mutation, had a milder phenotype of GEFS+, whereas the father, who had died at the time of the study, had FS+(Annesi G,et al. Epilepsia, 2003, 44(9):1257–1258. ).
Copyright ©2014 Institute of Neuroscience and The Second Affiliated Hospital of Guangzhou Medical University
Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China
Collaborative Innovation Center for Neurogenetics and Channelopathies, Guangzhou 510260, China.