| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1026 | 19 | c.3867_3869delCTT | p.Phe1289del | DIIIS3 | In-frame deletion | LOF | SMEB | De novo | Ohmori I.2002 |
| SMEI | De novo | Mancardi MM.2006 | |||||||
| De novo | Depienne C.2009 |
Functional information:
| Number | Nucleotide change | Protein change | Location | Phenotype | Functional defect type | Details of the major biophysical abnormalities. | Reference |
|---|---|---|---|---|---|---|---|
| 30 | c.3867_3869delCTT | p.Phe1289del(F1289del) | DIIIS3 | SMEB | LOF | No measurable sodium current. | Ohmori I.2006 |
| [c.3867_3869delCTT] Clinical description |
|---|
There was no detail description in article but the male patient had presented with the first seizure at the age of six months, and his father and sister had febrile convulsions(Ohmori I,et al. Biochem Biophys Res Commun. 2002 Jul 5;295(1):17-23.[12083760]). |
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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.