Familial hemiplegic migraine (FHM) is a severe subtype of migraine with hemiparesis during attacks. We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. We identified the novel p.L1649Q mutation (c.4946T>A) in Na(v)1.1 sodium channel gene SCN1A (FHM3) in a
✦ LIBER ✦
A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas
✍ Scribed by R. Sánchez-Valle; A. Lladó; M. Ezquerra; M. J. Rey; L. Rami; J. L. Molinuevo
- Book ID
- 111065334
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 187 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1351-5101
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Mutations in the presenilin-1 (PS1) gene account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. We screened the coding part of the PS1 gene for the presence of mutations in a French family with EOAD, using single strand conformation polymorphism (SSCP) analysis. Patients