کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5628636 | 1579895 | 2016 | 4 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Short communicationIs FGF13 a major contributor to genetic epilepsy with febrile seizures plus? Short communicationIs FGF13 a major contributor to genetic epilepsy with febrile seizures plus?](/preview/png/5628636.png)
- Genetic analysis of 46 patients with generalized epilepsy with febrile seizures plus (GEFS+) was performed.
- One de novo missense mutation of FGF13 was found in a single patient.
- Our data suggests FGF13 is not a common cause of GEFS+.
Mutation of fibroblast growth factor 13 (FGF13) has recently been implicated in genetic epilepsy with febrile seizures plus (GEFS+) in a single family segregating a balanced translocation with a breakpoint in this X chromosome gene, predicting a partial knockout involving 3 of 5 known FGF13 isoforms. Investigation of a mouse model of complete Fgf13 knock-out revealed increased susceptibility to hyperthermia-induced seizures and epilepsy. Here we investigated whether mutation of FGF13 would explain other cases of GEFS+ compatible with X-linked inheritance. We screened the coding and splice site regions of the FGF13 gene in a sample of 45 unrelated probands where GEFS+ segregated in an X-linked pattern. We subsequently identified a de novo FGF13 missense variant in an additional patient with febrile seizures and facial edema. Our data suggests FGF13 is not a common cause of GEFS+.
Journal: Epilepsy Research - Volume 128, December 2016, Pages 48-51