| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1270 | 23 | c.4465C>A | p.Gln1489Lys | DIII-DIV | Missense | P/O→P/﹢(53); pLOF | FHM | Familial(Maternal,FHM),p=13/13 | Dichgans M.2005 |
Functional information:
| Number | Nucleotide change | Protein change | Location | Phenotype | Functional defect type | Details of the major biophysical abnormalities. | Reference |
|---|---|---|---|---|---|---|---|
| 33 | c.4465C>A | p.Gln1489Lys(Q1489K) | DIII-DIV | FHM f | pLOF | Increased persistent current but also enhanced entry into slow inactivation as well as delayed recovery from fast and slow inactivation, thus resulting in a predominantly loss-of-function phenotype further demonstrated by a greater loss of channel availability during repetitive stimulation. | Kahlig KM.2008 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 117 | c.4465C>A | p.Gln1489Lys(DIII-DIV) | Missense | FHM | FHM(Maternal) | 13/13 | Dichgans M.2005 |
| [c.4465C>A] Clinical description |
|---|
Three families with eighteen affected members is presented in article, including family 10, 15, 16. All of affected individuals experienced hemiplegic migraine with frequency from weekly to yearly and duration from 20 minutes to 2days (Dichgans M, et al. Lancet. 2005 Jul 30-Aug 5;366(9483):371-7.[16054936]). |
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.