Familial focal epilepsy with variable foci 3
| Disorder | |
|---|---|
| OMIM #: | #617118 (Click to access OMIM database) |
| Disorder: | Familial focal epilepsy with variable foci 3 |
| Also known as: | Familial focal epilepsy and focal cortical dysplasia |
| Clinical | |
| Phenotype: | focal cortical dysplasia, focal seizures |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | NPRL3 |
| Base Change: | c.349delG |
| Amino Acid Change: | p.Glu117Lysfs*5 |
| Last updated: | 2022-11-04 |
| References |
|---|
| Iffland PH, Everett ME, Cobb-Pitstick KM, Bowser LE, Barnes AE, Babus JK, Romanowski AJ, Baybis M, Elziny S, Puffenberger EG, Gonzaga-Jauregui C, Poulopoulos A, Carson VJ, Crino PB. (2022) NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination, and seizure threshold. Brain Feb 8:awac044. PubMed ID: 35136953 |
| 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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