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Phenotypes and Genotypes in Symptomatic and Idiopathic Epilepsy Syndromes

Thursday, 24 January, 2008 - 17:00
Campus: Brussels Health Campus
Faculty: Medicine and Pharmacy
auditorium P. Brouwer
An Jansen
phd defence

We have studied the phenotypes, where possible
in relation to the genotypes, in symptomatic and
idiopathic epilepsy syndromes. We have
expanded the phenotypes and have reviewed and
elaborated the genotypes in different
malformations of cortical development, including
polymicrogyria and periventricular heterotopia.
We have provided a more detailed description of
the epilepsy phenotype in genetic disorders that
are frequently associated with epilepsy, including
tuberous sclerosis complex, vanishing white
matter disease, Lafora disease and choreaacanthocytosis.
We have studied the genetic
basis underlying idiopathic epilepsy syndromes
and have provided guidelines for the selection of
patients in whom genetic testing might be useful.
When evaluating the contribution of genetic
testing (genotype) to patient counseling and
treatment (phenotype), the disorders studied in
this thesis can be separated into two groups. The
genetic basis of disorders in the first group,
including tuberous sclerosis complex, Lafora
disease, and others, has almost completely been
clarified, and the determination of the genotype
is starting to play a significant role in counseling,
management, and treatment of patients.
Disorders in the second group, including
polymicrogyria, heterotopia, and most idiopathic
epilepsies, are likely to result from complex
inheritance, with interplay between multiple
genes as well as environmental factors. Research
in this group is still in the phase of gene-hunting
and the current contribution of the genotype to
the management of individual patients remains
limited. It is hoped that the research presented in
this thesis will help make a contribution to our
understanding of the epilepsies and will highlight
the importance of further research in this field.