Abstract
Epilepsy is an ever-changing field of research, with genetics and genomics playing
a very important role in recent times. Novel technologies detecting chromosomal aberrations
are applied widely, and array-based comparative genomic hybridization (array CGH)
has become a basic diagnostic tool in a variety of neurologic and neuropsychiatric
conditions. The authors describe five Albanian children suffering from epilepsy and
screened for genetic problems using array CGH and other methods. A thorough neurological
examination and imaging studies were performed for all patients, who in addition to
seizures, suffered from diverse medical conditions such as microcephaly, developmental
delay, intellectual disability, dysmorphic features, heart anomalies, cryptorchidism,
and other clinical stigmata of an aberrant neurodevelopment. It is evident from our
case reports that the array CGH as a diagnostic tool in molecular genetics has facilitated
the recognition of microdeletions and microduplications as risk factors for both generalized
and focal epilepsies. This method, therefore, clearly has a practical and scientific
value in the investigation of children with epilepsy and associated intellectual disability
and congenital anomalies.
Keywords
epilepsy - seizures - chromosomal abnormalities - karyotype - array-based comparative
genomic hybridization
