Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1864 | dup 2q24.3 | dup SCN1A | Whole gene duplication | NIE | Familial(Paternal,mosaic,asympt),p=1/1 | Raymond G. 2011 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 180 | dup 2q24.3 | Dup SCN1A,2A,3A | Whole gene duplication | NIE | No symptom(Paternal) | Mosaic(~15%) | 2 | 1/1 | Raymond G. 2011 |
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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.