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Benign 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
Test Type
Genetic Disease/Disorder
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
HSP Test-Specific Data
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
LGI2
Mutation
c.1552A>T
Embark
GTP
GTP Name
Embark
Breed
OMIA
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
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
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
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
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
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
LGI2
Mutation
c.1552A>T
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
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
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Juvenile Epilepsy
Gene Name
LGI2
Mutation
c.1552A>T
Mutation Comment
g.85210442A>T
Nature of test
mutation test
FCI Number
298
GTP Breed
Romagna water dog/ Lagotto romagnolo
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Juvenile epilepsy
Gene Name
LGI2
Mutation
c.1552A>T
Nature of test
mutation test
FCI Number
298
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
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
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
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
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
LGI2
Mutation
c.1552A>T
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