Epilepsy, generalized, with febrile seizures plus, type 1
| Disorder | |
|---|---|
| OMIM #: | #604233 (Click to access OMIM database) |
| Disorder: | Epilepsy, generalized, with febrile seizures plus, type 1 |
| Also known as: | GEFS+, TYPE 1 GEFS+1 |
| Clinical | |
| Phenotype: | febrile seizures, later development of afebrile seizures, generalized seizures, absence seizures, myotonic seizures, atonic seizures |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | SCN1B |
| Base Change: | G>A, at nucleotide 350 |
| Amino Acid Change: | gly 117 --> asp |
| 2 Old Order Mennonite | |
| Gene: | SCN1B |
| Base Change: | c.305_313delAGGATCTGT |
| Amino Acid Change: | p.(Gln102_Ser105delinsPro) |
| Last updated: | 2022-11-03 |
| References |
|---|
| Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG. (2018) Genomic diagnostics within a medically underserved population: efficacy and implications. Genet Med Jan;20(1):31-41. PubMed ID: 28726809 |
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