Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 504 | 10 | c.1624C>T | p.Arg542X | DI-DII | Nonsense | Haploinsufficiency | SMEI | De novo | Mancardi MM.2006 |
| SMEI | De novo | Depienne C.2009 | |||||||
| SMEI | De novo | Marini C.2007 | |||||||
| SMEI | Familial(Maternal,mosaic,asympt),P=2/2 | Depienne C.2006 | |||||||
| SME | De novo | Sun H.2010 | |||||||
| SMEI | NA | Zuberi SM.2011 | |||||||
| Epilepsy and/or NDD | NA | Lindy AS.2018 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 56 | c.1624C>T | p.Arg542X(DI-DII) | Nonsense | SMEI | No symptom(Maternal) | Mosaic(~25%) | 2 | 2/2 | Depienne C.2006 |
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.