DonateBenign Familial Juvenile Epilepsy
Breed: Romagna water dog/ Lagotto romagnolo
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
General
Disease Name
Benign Familial Juvenile Epilepsy
OMIA
1596
Gene Name
LGI2
Mutation
c.1552A>T
Details
Benign Familial Juvenile Epilepsy (BFJE) is an inherited neurological disease. The disease is characterized by seizures in pups, with the age of onset around 8 weeks of age, resolving by 13 weeks. Some adult cases have been observed. There are many forms of epilepsy reported across many breeds (and mixed-breeds), and only a few have tests associated with them. It has been reported that some dogs tested as carriers for this condition have had symptoms of BFJE, and it is not known if this is due to an different, unidentified mutation or if it is possible in some cases for one copy of the mutation to cause disease. Researchers are engaged with breed clubs and owners to further understanding.
Details 2
Benign Familial Juvenile Epilepsy (BFJE) is an inherited neurological disease. The disease is characterized by seizures in pups, with the age of onset around 8 weeks of age, resolving by 13 weeks. Some adult cases have been observed. There are many forms of epilepsy reported across many breeds (and mixed-breeds), and only a few have tests associated with them. It has been reported that some dogs tested as carriers for this condition have had symptoms of BFJE, and it is not known if this is due to an different, unidentified mutation or if it is possible in some cases for one copy of the mutation to cause disease. Researchers are engaged with breed clubs and owners to further understanding.
Published
Seppala EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen S,Steffen F, Dietschi E, Leeb T, Eklund R, Xiaochu Z, Rilstone J, Lindblad-Toh K, Minassian BA and Lohi H. LGI2 truncation causes a remitting focal epilepsy in dogs. PLoS Genet. 2011 Jul;7(7):e1002194. Epub 2011 Jul 28.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
GTP Test-Specific Data
Generatio GmbH Center for Animal Genetics
GTP Name
Generatio GmbH Center for Animal Genetics
Gene Name
LGI2
Mutation
c.1552A>T
DNA My Dog
GTP
GTP Name
DNA My Dog
GTP Disease Name
Juvenile Epilepsy
Gene Name
LGI2
Mutation
c.1552A>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen S,Steffen F, Dietschi E, Leeb T, Eklund R, Xiaochu Z, Rilstone J, Lindblad-Toh K, Minassian BA and Lohi H. LGI2 truncation
Application in the Breed
Carriers may be bred to normal animals (N/bfje x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/bfje x N/bfje) nor of affected animals (bfje/bfje). Seizures in pups (1-5 months of age), tremors, altered consciousness, and ataxia
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
298
GTP Breed
Romagna water dog/ Lagotto romagnolo
Embark
GTP
GTP Name
Embark
GTP Disease Name
Juvenile Epilepsy
Gene Name
LGI2
Mutation
c.1552A>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen S,Steffen F, Dietschi E, Leeb T, Eklund R, Xiaochu Z, Rilstone J, Lindblad-Toh K, Minassian BA and Lohi H. LGI2 truncation
Application in the Breed
Carriers may be bred to normal animals (N/bfje x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/bfje x N/bfje) nor of affected animals (bfje/bfje). Seizures in pups (1-5 months of age), tremors, altered consciousness, and ataxia
Inheritance
AR
FCI Number
298
GTP Breed
Romagna water dog/ Lagotto romagnolo
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Gene Name
LGI2
Mutation
c.1552A>T
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
GTP Disease Name
Juvenile Epilepsy
Gene Name
LGI2
Mutation
c.1552A>T
Nature of test
mutation test
FCI Number
298
GTP Breed
Romagna water dog/ Lagotto romagnolo
GenSol Diagnostics
GTP Name
GenSol Diagnostics
GTP Disease Name
Juvenile Epilepsy
Gene Name
LGI2
Mutation
c.1552A>T
GTP- or Breed-Specific Publications
Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen S,Steffen F, Dietschi E, Leeb T, Eklund R, Xiaochu Z, Rilstone J, Lindblad-Toh K, Minassian BA and Lohi H. LGI2 truncation
Application in the Breed
Carriers may be bred to normal animals (N/bfje x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/bfje x N/bfje) nor of affected animals (bfje/bfje). Seizures in pups (1-5 months of age), tremors, altered consciousness, and ataxia
Laboklin Gmbh & Co. KG
GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
Juvenile epilepsy
Gene Name
LGI2
Mutation
c.1552A>T
Nature of test
mutation test
FCI Number
298
Orivet Genetic Pet Care
GTP Name
Orivet Genetic Pet Care
GTP Disease Name
Juvenile Epilepsy
Gene Name
LGI2
Mutation
c.1552A>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen S,Steffen F, Dietschi E, Leeb T, Eklund R, Xiaochu Z, Rilstone J, Lindblad-Toh K, Minassian BA and Lohi H. LGI2 truncation
Application in the Breed
Carriers may be bred to normal animals (N/bfje x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/bfje x N/bfje) nor of affected animals (bfje/bfje). Seizures in pups (1-5 months of age), tremors, altered consciousness, and ataxia
Inheritance
AR
FCI Number
298
GTP Breed
Romagna water dog/ Lagotto romagnolo
Paw Print Genetics
GTP Name
Paw Print Genetics
GTP Disease Name
Juvenile Epilepsy
Gene Name
LGI2
Mutation
c.1552A>T
Nature of test
mutation test
FCI Number
298
GTP Breed
Romagna water dog/ Lagotto romagnolo
Wisdom Panel
GTP
GTP Name
Wisdom Panel
GTP Disease Name
Juvenile Epilepsy
Gene Name
LGI2
Mutation
c.1552A>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen S,Steffen F, Dietschi E, Leeb T, Eklund R, Xiaochu Z, Rilstone J, Lindblad-Toh K, Minassian BA and Lohi H. LGI2 truncation
Application in the Breed
Carriers may be bred to normal animals (N/bfje x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/bfje x N/bfje) nor of affected animals (bfje/bfje). Seizures in pups (1-5 months of age), tremors, altered consciousness, and ataxia
Inheritance
AR
FCI Number
298
GTP Breed
Romagna water dog/ Lagotto romagnolo
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