Gene Variant Sheds Light on Infant Epilepsy

For a long time, benign familial infantile epilepsy (BFIE) has been viewed as a genetic infantile seizure that runs in families, but no one has been able to determine what really causes it. New research may just have the answer in the form of a newly-discovered gene variant.

Researchers from the University of Melbourne and Florey Neurosciences Institute along with molecular geneticists at the University of South Australia believe that they have located a gene that may finally end the mystery of BFIE.

BFIE basically affects healthy babies who develop seizures at six months of age. The condition stops when the children are around two years old. It is considered a rare type of epilepsy that was surrounded in mystery until Australian researchers decided to delve deeper into it by studying data from 40 different families. The gene that researchers discovered shows that the gene’s abnormality causes the kids to eventually develop a movement disorder later on in their childhood. The movement disorder is called Paroxysmal Kinesigenic Choreoathetosis (PKC).

PKC causes the kids to suffer from sudden, brief stiffening or twisting of their muscles during movement. The new research shows that families that are predisposed to have this condition carry a gene variant called PRRT2. PRRT2 causes the protein the gene encodes to form incorrectly. So far, the researchers don’t know what this gene does or how it causes babies to have seizures. According to Professor Ingrid Scheffer, Chair of Paediatric Neurology Research believes that this new finding may be able to help families know why their babies are having seizures.

Epilepsy affects millions of Americans and is treated with various anti-seizure medications, including Topamax. Topamax has long been linked to various adverse side effects, including birth defects. Some of the birth defects linked to Topamax use by mothers during gestation include oral clefts, PPHN and heart, brain and lung defects.

If your baby was born with a birth defect after the mother used Topamax during pregnancy, contact attorney Greg Jones today for a free consultation. I am experienced at fighting Topamax lawsuits and may be able to help you recover money for your baby’s injuries.

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