Genetic Cause Of Heritable Infant Epilepsy Due To Mutations In The PRRT2 Gene

Australian researchers have discovered that variations in the PRRT2 gene may be the cause of some infantile seizures.

AsianScientist (Jan. 17, 2012) – Clinical researchers at the University of Melbourne and Florey Neurosciences Institute, and molecular geneticists at the University of South Australia have discovered that mutations found in the PRRT2 gene may be the cause of a heritable form of infant epilepsy.

Epileptic seizures in infants are not rare, with many potential causes such as fever or brain infection. However, researchers have recognised for some time that there is a rare and heritable form of infant epilepsy, known as benign familial infantile epilepsy (BFIE), which is estimated to occur in about 60 Australian families.

BFIE is a disorder that occurs in previously healthy infants who are developing normally. Seizures commence when a baby is about six months old and stop by the age of two years.

Some of the children with this form of epilepsy develop an unusual movement disorder later in childhood or adolescence. This movement disorder causes sudden, brief stiffening or twisting of their muscles as the person starts to move, for instance, people with this condition often have difficulty crossing the road when the traffic lights change to green.

Affected individuals in families with this condition have now been found to carry mutations in a gene called PRRT2, which may cause the protein encoded by the gene to form incorrectly.

The function of the PRRT2 gene is not yet known nor is it understood how the changes in this gene cause an infant to have seizures.

Professor Ingrid Scheffer, one of the leaders of the study published in the American Journal of Human Genetics, said the finding would help families understand why their baby has seizures and will provide reassurance that the baby will grow out of the seizures and not have long term problems. It will also help with early diagnosis and appropriate treatment of the movement disorder.

The article can be found at: Heron et al. (2012) PRRT2 Mutations Cause Benign Familial Infantile Epilepsy And Infantile Convulsions With Choreoathetosis Syndrome.

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Source: University of Melbourne.
Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff.

Yew Chung is a postdoctoral research fellow at the Duke-NUS Graduate Medical School, Singapore.

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