| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 176 | IVS4 | c.602+1G>A | DIS3 | Splice donor site | Del. exon 4 | SMEI | De novo | Fujiwara T.2003 | |
| SMEI | De novo | Mancardi MM.2006 | |||||||
| SMEI | De novo | Harkin LA.2007 | |||||||
| SMEI | Familial(Paternal,mosaic,GEFS+),P=2/2 | Marini C.2007 | |||||||
| SMEI | De novo | Marini C.2007 | |||||||
| SMEI | Familial(Maternal,mosaic,asympt),p=2/3 | Depienne C.2010 | |||||||
| NA | 3De novo | Depienne C.2009 | |||||||
| SMEI/Unclassified | De novo;3NA | Zuberi SM.2011 | |||||||
| SMEI | De novo | Nicita F.2010 | |||||||
| SMEI | De novo | Petrelli C.2012 | |||||||
| SMEI | De novo | Wang JW.2012 | |||||||
| SME | De novo | Petrelli C.2012 | |||||||
| SME+AE | NA | Okumura A.2012 | |||||||
| FE(MCDs) | De novo | Barba C.2014 | |||||||
| SME | NA | Lee HF.2014 | |||||||
| SME | NA | Xu X.2014 | |||||||
| Epilepsy and/or NDD | NA | Lindy AS.2018 |
Functional information:
| Number | Intron | Nucleotide change | Phenotype | Details of the abnormal result | Protein change | Reference |
|---|---|---|---|---|---|---|
| 1 | IVS 4 | c.602+1G>A | SMEI | Deletion of exon 4. | p.Thr160_Tyr202del | Meng H, Epilepsia 2013: 54(Suppl.3): 192 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 26 | c.602+1G>A | ND(DIS3) | Splice donor site | SMEI | GEFS+(Paternal) | Mosaic(~28%) | 2 | 2/2 | Marini C.2007 |
| SMEI | No symptom(Maternal) | Mosaic(~25%) | 2 | 2/3 | Depienne C.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.