Australian researchers at the University of Melbourne and Florey Neurosciences Institute, along with researchers at the University of South Australia, have discovered the gene that causes epilepsy in infants.
So far, researchers were clueless as to the cause of infantile seizures; known as Benign familial infantile epilepsy (BFIE), the disorder occurs in previously healthy infants, and commences when the baby reaches the age of six months. Some children with this form of epilepsy develop an unusual movement disorder later in childhood: a brief stiffening or twisting of muscles as the person starts to move.
The researchers discovered that mutations in the PRRT2 gene may be the cause of some infantile seizures. Changes in the gene may cause the protein encoded by the gene to form incorrectly.
Professor Ingrid Scheffer, one of the lead researchers of the study, and recipient of the 2012 L’Oréal-UNESCO Women in Science Award, says the finding would help early diagnosis of BFIE, and would go a long way in reassuring parents, helping them understand why their baby has seizures.
The function of the PRRT2 gene is not yet known.
Source: www. asianscientist.com