Epilepsy and chromosome 18 abnormalities: A review. (November 2015)

• Record Type: Journal Article
• Authors: Verrotti, Alberto; Carelli, Alessia; di Genova, Lorenza; Striano, Pasquale
• Is Part Of: Seizure. Volume 32(2015)
• Page Start: 78
• Page End: 83
• Publication Date: 2015-11
• Subjects: Chromosome 18 -- Chromosomal aberrations -- Epilepsy -- Seizures; Epilepsy -- Periodicals; Epilepsy -- Periodicals; Seizures -- Periodicals; Épilepsie -- Périodiques; Electronic journals; Electronic journals; 616.853
• DOI: 10.1016/j.seizure.2015.09.013
• Languages: English
• ISSNs: 1059-1311

Abstract

Highlights: Epilepsy is frequent in patients with trisomy 18 and 18q- deletion syndrome. Over half of the patients develop epilepsy during infancy or early childhood. Trisomy 18 is associated more frequent with generalized epilepsies. Prognosis is variable and more severe in trisomy 18. Abstract: Purpose: To analyze the various types of epilepsy in subjects with chromosome 18 aberrations in order to define epilepsy and its main clinical, electroclinical and prognostic aspects in chromosome 18 anomalies. Methods: A careful overview of recent works concerning chromosome 18 aberrations and epilepsy has been carried out considering the major groups of chromosomal 18 aberrations, identified using MEDLINE and EMBASE database from 1980 to 2015. Results: Epilepsy seems to be particularly frequent in patients with trisomy or duplication of chromosome 18 with a prevalence of up to 65%. Approximately, over half of the patients develop epilepsy during the first year of life. Epilepsy can be focal or generalized; infantile spasms have also been reported. Brain imagines showed anatomical abnormalities in 38% of patients. Some antiepileptic drugs as valproic acid and carbamazepine were useful for treating seizures although a large majority of patients need polytherapy. Conclusion: Children with chromosomal 18 abnormalities can present different types of epilepsy, more frequently focal seizures in individuals with 18q- deletion syndrome, while both complex partial seizures and generalized tonic–clonic seizures have been described in patients who suffer for trisomy 18. Outcome in term of seizures frequency and duration seems to be variable and epilepsy is drug resistant in half of the children, especially in children with trisomy 18 and generalized epilepsy.