Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1665 | 26 | c.5483T>C | p.Leu1828Ser | C-terminal | Missense | N→P/O(145) | NA | De novo | L?fgren A.2010(unpublished) |
| Neurodevelopmental disorder, epilepsy-related | Familial.more severe compared with proband) | Stosser MB.2018 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 164 | c.5483T>C | p.Leu1828Ser(C-terminal) | Missense | Ep and NDD | Affected (more severe compared with proband) | mosaic (18.1%) | Stosser MB.2018 |
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.