Abstracts

RATIONALE: Between 2 - 5% of all children will experience a Febrile Seizure (FS) before the age of 5. In certain Pacific populations, this can be as high as 15%, making FSs the most common seizure disorder of childhood. Generally, a single febrile seizure or cluster of febrile events would have no long-term effect. A select group of these individuals however go on to develop full blown epilepsy. Our goal is to determine if the presence of an ApoE4 allele predicts future outcome. Identification of any genetic influence resulting in the remarkably different outcomes for these patients would be clinically significant.
Investigations into the possible influences of ApoE haplotype on CNS injury have focused almost exclusively on the severely injured adult neurotrauma population, and the elderly. Clearly a significant percentage of moderate CNS trauma occurs in the pediatric population. Even short delays in recovery can exact a huge toll on the ultimate development and accomplishments of these children. There is no reliable assessment of what effect ApoE haplotype is having on recovery in the pediatric population. It is imperative that any noxious role the ApoE 4 allele may play in pediatric development and recovery from trauma be investigated.
METHODS: We hypothesize that if an individual with an Apo E4 allele is less able to repair any subtle neuronal damage that may follow a febrile seizure, there could be subsequent long term ramifications from what in most of the population would be a benign event. We have studied 200+ samples with a detailed medical assessment of the initial febrile seizure profile and in the older family members at least, an evaluation of any seizures/epilepsy later in life. Assuming a normal allele frequency distribution, we expect to see perhaps 15% to 18% of patients with an expected Apo E4 allele.
RESULTS: There was a surprising trend toward a disassociation of seizure phenotype with the presence of an ApoE 4 allele, perhaps contra intuitive to what we would have expected based on the adult literature supporting a role for ApoE 4 in significant delay in recovery from neuro trauma.
CONCLUSIONS: Efforts are underway to further subdivide the patient population into those who only had febrile seizures as children and those that went on to develop seizure disorders or other neurological issues as adults. Given that this population was not collected specifically to fit those criteria, efforts are being made to retrospectively contact patients when possible and to target future family collection with an eye toward this type of long term follow-up data
[Supported by: The Neurogenetics Laboratory would like to acknowledge the generous support of the Barrow Neurological Foundation Women[scquote]s Board.]