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
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 Health (formerly Mars Veterinary)
GTP Name
Wisdom Health (formerly Mars Veterinary)
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 Name
Generatio GmbH ? Center for Animal Genetics
Gene Name
LGI2
Mutation
c.1552A>T
-
HGTD Quick Search
-
The portal for Genetic Testing Providers (labs); genetic tests, and tests by breed: as well as information on quality indicators and genetic counseling resources.
GOAL: Robust genetic testing supporting health improvements & a sustainable future for healthy dogs. -
HGTD Database Resources
How to use the HGTD
Using HGTD - YouTube Videos
HGTD Quality Indicators
Acronyms - Mode of Inheritance♦ 2020-New What is a Relevance Rating?
FAQs
Answers to frequently asked questions about the HGTD
Accreditation Basics
This brief overview may help you identify what types of accreditation are important to you, when choosing your genetic test provider.
Accreditation and Industry Standards
List of organizations throughout the world that are involved in matters of accreditation and establishing industry standards.
Choosing a Genetic Test Provider
Choosing a genetic test provider can be daunting. This short article helps you to consider what is important to you, and your dogs, in finding the right test provider for you. -
Counselling Resources
The HGTD genetic counselling resources index link above and links below provide access to basic introductory articles on genetics, articles on application of genetics in breed health management and advanced work in technical genetics research. Breed-specific information is also available in DWN's Pedigreed Dogs Database.
