Electroclinical features of epilepsy in patients with InvDup(15)

Alberto Verrotti, Fiammetta Sertorio, Sara Matricardi, Pietro Ferrara, Pasquale Striano

Research output: Contribution to journalReview article

5 Citations (Scopus)

Abstract

PURPOSE: InvDup(15) syndrome is one of the most common chromosomal abnormalities associated with epilepsy. Here we review the seizure types described in InvDup(15) patients and the main electroclinical, therapeutic, and prognostic aspects of the syndrome.

METHODS: A literature search of PubMed, MEDLINE, and EMBASE was performed to identify papers examining InvDup(15) syndrome and epilepsy.

RESULTS: About 65% of the InvDup(15) patients described in the literature had multiple seizure types with a predominance (40.4%) of tonic-clonic seizures. Age at seizure onset was before 10 years in more than half of them. Patients suffered from a variety of EEG abnormalities, generalized spike activity being the most frequent. Brain MRI was unremarkable in the majority of patients. Treatment was with several anticonvulsant drugs used as mono- or polytherapy. Valproic acid was the most common treatment against generalized seizures and was often effective, although drug resistance was a major concern in a large number of cases. Finally, more than 30% of the children suffered from infantile spasms, and status epilepticus was described in nearly 20% of patients, occasionally resulting in death.

CONCLUSION: Seizures are very common in InvDup(15) patients, who suffer from a variety of seizure types. Information about EEG and brain MRI findings, seizure treatment, and prognosis is often poor. The overall prognosis is fair. Prospective studies of larger samples are needed, to gain further insights into the natural history of InvDup(15) syndrome.

Original languageEnglish
Pages (from-to)87-91
Number of pages5
JournalSeizure
Volume47
DOIs
Publication statusPublished - Apr 2017

Fingerprint

Epilepsy
Seizures
Electroencephalography
Infantile Spasms
Status Epilepticus
Brain
Valproic Acid
Therapeutics
Natural History
Age of Onset
Drug Resistance
PubMed
MEDLINE
Chromosome Aberrations
Anticonvulsants
Prospective Studies

Keywords

  • Chromosome Disorders
  • Chromosomes, Human, Pair 15
  • Epilepsy
  • Humans
  • Journal Article
  • Review

Cite this

Electroclinical features of epilepsy in patients with InvDup(15). / Verrotti, Alberto; Sertorio, Fiammetta; Matricardi, Sara; Ferrara, Pietro; Striano, Pasquale.

In: Seizure, Vol. 47, 04.2017, p. 87-91.

Research output: Contribution to journalReview article

Verrotti, Alberto ; Sertorio, Fiammetta ; Matricardi, Sara ; Ferrara, Pietro ; Striano, Pasquale. / Electroclinical features of epilepsy in patients with InvDup(15). In: Seizure. 2017 ; Vol. 47. pp. 87-91.
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abstract = "PURPOSE: InvDup(15) syndrome is one of the most common chromosomal abnormalities associated with epilepsy. Here we review the seizure types described in InvDup(15) patients and the main electroclinical, therapeutic, and prognostic aspects of the syndrome.METHODS: A literature search of PubMed, MEDLINE, and EMBASE was performed to identify papers examining InvDup(15) syndrome and epilepsy.RESULTS: About 65{\%} of the InvDup(15) patients described in the literature had multiple seizure types with a predominance (40.4{\%}) of tonic-clonic seizures. Age at seizure onset was before 10 years in more than half of them. Patients suffered from a variety of EEG abnormalities, generalized spike activity being the most frequent. Brain MRI was unremarkable in the majority of patients. Treatment was with several anticonvulsant drugs used as mono- or polytherapy. Valproic acid was the most common treatment against generalized seizures and was often effective, although drug resistance was a major concern in a large number of cases. Finally, more than 30{\%} of the children suffered from infantile spasms, and status epilepticus was described in nearly 20{\%} of patients, occasionally resulting in death.CONCLUSION: Seizures are very common in InvDup(15) patients, who suffer from a variety of seizure types. Information about EEG and brain MRI findings, seizure treatment, and prognosis is often poor. The overall prognosis is fair. Prospective studies of larger samples are needed, to gain further insights into the natural history of InvDup(15) syndrome.",
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AU - Verrotti, Alberto

AU - Sertorio, Fiammetta

AU - Matricardi, Sara

AU - Ferrara, Pietro

AU - Striano, Pasquale

N1 - Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

PY - 2017/4

Y1 - 2017/4

N2 - PURPOSE: InvDup(15) syndrome is one of the most common chromosomal abnormalities associated with epilepsy. Here we review the seizure types described in InvDup(15) patients and the main electroclinical, therapeutic, and prognostic aspects of the syndrome.METHODS: A literature search of PubMed, MEDLINE, and EMBASE was performed to identify papers examining InvDup(15) syndrome and epilepsy.RESULTS: About 65% of the InvDup(15) patients described in the literature had multiple seizure types with a predominance (40.4%) of tonic-clonic seizures. Age at seizure onset was before 10 years in more than half of them. Patients suffered from a variety of EEG abnormalities, generalized spike activity being the most frequent. Brain MRI was unremarkable in the majority of patients. Treatment was with several anticonvulsant drugs used as mono- or polytherapy. Valproic acid was the most common treatment against generalized seizures and was often effective, although drug resistance was a major concern in a large number of cases. Finally, more than 30% of the children suffered from infantile spasms, and status epilepticus was described in nearly 20% of patients, occasionally resulting in death.CONCLUSION: Seizures are very common in InvDup(15) patients, who suffer from a variety of seizure types. Information about EEG and brain MRI findings, seizure treatment, and prognosis is often poor. The overall prognosis is fair. Prospective studies of larger samples are needed, to gain further insights into the natural history of InvDup(15) syndrome.

AB - PURPOSE: InvDup(15) syndrome is one of the most common chromosomal abnormalities associated with epilepsy. Here we review the seizure types described in InvDup(15) patients and the main electroclinical, therapeutic, and prognostic aspects of the syndrome.METHODS: A literature search of PubMed, MEDLINE, and EMBASE was performed to identify papers examining InvDup(15) syndrome and epilepsy.RESULTS: About 65% of the InvDup(15) patients described in the literature had multiple seizure types with a predominance (40.4%) of tonic-clonic seizures. Age at seizure onset was before 10 years in more than half of them. Patients suffered from a variety of EEG abnormalities, generalized spike activity being the most frequent. Brain MRI was unremarkable in the majority of patients. Treatment was with several anticonvulsant drugs used as mono- or polytherapy. Valproic acid was the most common treatment against generalized seizures and was often effective, although drug resistance was a major concern in a large number of cases. Finally, more than 30% of the children suffered from infantile spasms, and status epilepticus was described in nearly 20% of patients, occasionally resulting in death.CONCLUSION: Seizures are very common in InvDup(15) patients, who suffer from a variety of seizure types. Information about EEG and brain MRI findings, seizure treatment, and prognosis is often poor. The overall prognosis is fair. Prospective studies of larger samples are needed, to gain further insights into the natural history of InvDup(15) syndrome.

KW - Chromosome Disorders

KW - Chromosomes, Human, Pair 15

KW - Epilepsy

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SP - 87

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JO - Seizure : the journal of the British Epilepsy Association

JF - Seizure : the journal of the British Epilepsy Association

SN - 1059-1311

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