Developing an animal model for infantile spasms: pathogenesis, problems and progress.
Infantile spasms (IS), the most common of the early epileptic encephalopathies, afflicts thousands of children each year and results in significant disability. Also known as West syndrome, IS is characterized by intractable stereotyped seizures, poor developmental outcome and a characteristic electroencephalogram (EEG) pattern. IS often progresses into another epileptic encephalopathy known as Lennox-Gastaut syndrome, and continues with the patient being burdened by lifelong epilepsy and varying degrees of mental retardation. Little is known about the biological basis of IS. As the etiologies of IS are diverse, the multiple causes must converge into a final common pathway that results in this specific epilepsy phenotype. Finding a model or models to test this final pathway is necessary both to understand why the greatest susceptibility to seizure development occurs during infancy and early childhood, and what underlies the decreased cognitive potential associated with IS. Furthermore, appropriate models would permit better testing of potential therapies directed specifically at IS. This review will describe the clinical features and etiologies of IS; the ideal features that IS models should contain; and the IS models that exist currently. Finally, we will discuss the limitations of these models and the potential avenues for future research on IS.
Marsh
Eric D
ED
Department of Neurology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. marshe@email.chop.edu
Golden
Jeffrey A
JA
D000818:Animals; D035843:Biomedical Research / Q000639:trends; D004195:Disease Models, Animal; D004569:Electroencephalography / Q000379:methods; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D051379:Mice; D009154:Mutation; D010641:Phenotype; D013036:Spasms, Infantile / Q000175:diagnosis* / Q000503:physiopathology* / Q000628:therapy