Amish, Mennonite, and Hutterite
Genetic Disorder Database

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:  
Clinical
Phenotype: focal cortical dysplasia, focal seizures 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: NPRL3
Base Change: del.G, at nucleotide 349
Amino Acid Change: Frame shift
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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