identified a new childhood disorder characterised by severe epilepsy
and autistic traits, and identified its genetic basis, according to a
report published in the New England Journal of Medicine.
dysplasia-focal epilepsy syndrome (CDFE) was discovered in a group of
closely related Old Order Amish children from Pennsylvania, USA.
affected children had relatively normal development until the start of
frequent difficult-to-control seizures in early childhood. These were
then followed by the loss of some language skills and additional
features of autism, possibly implicating this particular gene as a
cause of autism in the general population.
Doctors at the Clinic for Special Children in Strasburg, Pennsylvania isolated DNA from four of the children and their six parents. In collaboration with Translational Genomics Research Institute, they identified a mutation in the gene relating to a protein called CASPR2.
protein has a well-known role in maintaining physical contacts between
neurons and neighbouring cells in the adult nervous system. Researchers
claim this is the first evidence that CASPR2 is also important for
early human brain development.
Dr Holmes Morton, medical director of the clinic, said:
identification of the mutation in CASPR2 in our Amish patients has
already allowed us to recognize affected newborns before they become
symptomatic [until symptoms are seen]. Our hope is that early treatment
and prevention of prolonged seizures in these infants will lessen the
effects of the disorder upon the lives of children and their families."