Amish infantile epilepsy syndrome
| Disorder | |
|---|---|
| OMIM #: | #609056 (Click to access OMIM database) |
| Disorder: | Amish infantile epilepsy syndrome |
| Also known as: | EPILEPSY SYNDROME, INFANTILE-ONSET SYMPTOMATIC, GM3 SYNTHASE DEFICIENCY |
| Clinical | |
| Phenotype: | infantile-onset seizures, irritability, feeding difficulties, failure to thrive, vomiting, developmental delay/mental retardation, blindness |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Amish | |
| Gene: | SIAT9, E8 region |
| Base Change: | C>T, at nucleotide 694 |
| Amino Acid Change: | arg 232 --> term |
| Last updated: | 2009-03-15 |
| References |
|---|
| Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, and Crosby AH. (2004) Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet 36(11): 1225-1229. PubMed ID: 15502825 |
Back