Rigidity and multifocal seizure syndrome, lethal neonatal
| Disorder | |
|---|---|
| OMIM #: | #614498 (Click to access OMIM database) |
| Disorder: | Rigidity and multifocal seizure syndrome, lethal neonatal |
| Also known as: | RMFSL Lethal neonatal rigidity and multifocal epilepsy |
| Clinical | |
| Phenotype: | refractory seizures, myoclonic seizures, mutifocal seizures, motor delay, rigidity, scissoring gait pattern, hypertonia, hyperreflexia, devleopmental delay, microcepahaly, small or absent fontanelles, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | BRAT1 |
| Base Change: | c.638dupA |
| Amino Acid Change: | p.Val214Glyfs*189 |
| Last updated: | 2023-02-02 |
| References |
|---|
| Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 7(1):e28936. PubMed ID: 22279524 |
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