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.
| Original language | English |
|---|---|
| Pages (from-to) | 78-83 |
| Number of pages | 6 |
| Journal | Seizure |
| Volume | 32 |
| DOIs | |
| Publication status | Published - Nov 1 2015 |
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Keywords
- Chromosomal aberrations
- Chromosome 18
- Epilepsy
- Seizures
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
Epilepsy and chromosome 18 abnormalities : A review. / Verrotti, Alberto; Carelli, Alessia; Di Genova, Lorenza; Striano, Pasquale.
In: Seizure, Vol. 32, 01.11.2015, p. 78-83.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Epilepsy and chromosome 18 abnormalities
T2 - A review
AU - Verrotti, Alberto
AU - Carelli, Alessia
AU - Di Genova, Lorenza
AU - Striano, Pasquale
PY - 2015/11/1
Y1 - 2015/11/1
N2 - 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.
AB - 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.
KW - Chromosomal aberrations
KW - Chromosome 18
KW - Epilepsy
KW - Seizures
UR - http://www.scopus.com/inward/record.url?scp=84947968214&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84947968214&partnerID=8YFLogxK
U2 - 10.1016/j.seizure.2015.09.013
DO - 10.1016/j.seizure.2015.09.013
M3 - Article
C2 - 26552569
AN - SCOPUS:84947968214
VL - 32
SP - 78
EP - 83
JO - Seizure : the journal of the British Epilepsy Association
JF - Seizure : the journal of the British Epilepsy Association
SN - 1059-1311
ER -