Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1521 | exon 1-26 | del SCN1A exon 1-26 | del SCN1A | Whole gene deletion | PME | NA | Wang JW.2012 | ||
| SME/SMEI | NA | Marini C.2007 | |||||||
| 5SMEI;1NA | 6NA | Depienne C.2009 | |||||||
| SMEI | 6De novo;2NA | Zuberi SM.2011 | |||||||
| SMEI | NA | Reyes IS. 2011 | |||||||
| SMEI | 3De novo;1NA | Shi X. 2012 | |||||||
| SMEI | Probably familial | Depienne C.2010 | |||||||
| SMEI | Familial(Paternal,mosaic,asympt), p=3/3 | Suls A.2010 | |||||||
| SMEI | NA | Catarino CB. 2011 | |||||||
| SME | NA | Lim BC.2015 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 140 | del SCN1A exon 1-26 | Del SCN1A | Whole gene deletion | SMEI | No symptom(Paternal) | Mosaic(~20%) | 4 | 3/3 | Suls A.2010 |
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.