J Pediatr Epilepsy 2017; 06(03): 156-160
DOI: 10.1055/s-0037-1603493
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Epileptic Seizures Associated with Chromosomal Abnormalities Detected by Array Comparative Genomic Hybridization in Five Albanian Children

Anila Babameto-Laku
Service of Medical Genetics, University Hospital Centre “Mother Theresa,” University of Medicine, Tirana, Albania
,
Serla Grabova
Service of Neurology, University Hospital Centre “Mother Theresa,” University of Medicine, Tirana, Albania
,
Gentian Vyshka
Service of Neurology, University Hospital Centre “Mother Theresa,” University of Medicine, Tirana, Albania
,
Jera Kruja
Service of Neurology, University Hospital Centre “Mother Theresa,” University of Medicine, Tirana, Albania
› Author Affiliations
Further Information

Publication History

01 February 2017

18 April 2017

Publication Date:
22 May 2017 (eFirst)

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.