Amish, Mennonite, and Hutterite
Genetic Disorder Database

Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL)

Disorder
OMIM #: #614498  (Click to access OMIM database)
Disorder: Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) 
Also known as: Lethal neonatal rigidity and multifocal epilepsy 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: BRAT1
Base Change: c.638dupA
Amino Acid Change: frameshift causing premature termination
Last updated: 2017-05-01 

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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