Amish, Mennonite, and Hutterite
Genetic Disorder Database

Epilepsy, generalized, with febrile seizures plus, type 1

Disorder
OMIM #: #604233  (Click to access OMIM database)
Disorder: Epilepsy, generalized, with febrile seizures plus, type 1 
Also known as: GEFS+, TYPE 1
GEFS+1 
Clinical
Phenotype: febrile seizures, generalized seizures 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: SCN1B
Base Change: G>A, at nucleotide 350
Amino Acid Change:
2   Old Order Mennonite  
Gene: SCN1B
Base Change: c.305_313delAGGATCTGT
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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