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Electroclinical features of epilepsy in patients with InvDup(15).

Abstract 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.
PMID
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Authors

Mayor MeshTerms
Keywords

EEG

Epilepsy

InvDup 15

Seizures

Journal Title seizure
Publication Year Start




PMID- 28343008
OWN - NLM
STAT- MEDLINE
DA  - 20170326
DCOM- 20170417
LR  - 20170417
IS  - 1532-2688 (Electronic)
IS  - 1059-1311 (Linking)
VI  - 47
DP  - 2017 Apr
TI  - Electroclinical features of epilepsy in patients with InvDup(15).
PG  - 87-91
LID - S1059-1311(17)30180-2 [pii]
LID - 10.1016/j.seizure.2017.03.006 [doi]
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.
CI  - Copyright (c) 2017 British Epilepsy Association. Published by Elsevier Ltd. All
      rights reserved.
FAU - Verrotti, Alberto
AU  - Verrotti A
AD  - Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic
      address: [email protected]
FAU - Sertorio, Fiammetta
AU  - Sertorio F
AD  - Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic
      address: [email protected]
FAU - Matricardi, Sara
AU  - Matricardi S
AD  - Department of Pediatrics, University of Chieti, Chieti, Italy. Electronic
      address: [email protected]
FAU - Ferrara, Pietro
AU  - Ferrara P
AD  - Institute of Pediatrics, Catholic University, Roma, Italy. Electronic address:
      [email protected]
FAU - Striano, Pasquale
AU  - Striano P
AD  - Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences,
      Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of
      Genova, G. Gaslini Institute, Genova, Italy. Electronic address:
      [email protected]
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20170309
PL  - England
TA  - Seizure
JT  - Seizure
JID - 9306979
RN  - Isodicentric Chromosome 15 Syndrome
SB  - IM
MH  - Chromosome Disorders/complications/*diagnosis/*physiopathology/therapy
MH  - Chromosomes, Human, Pair 15
MH  - Epilepsy/*diagnosis/genetics/*physiopathology/therapy
MH  - Humans
OTO - NOTNLM
OT  - EEG
OT  - Epilepsy
OT  - InvDup 15
OT  - Seizures
EDAT- 2017/03/28 06:00
MHDA- 2017/04/18 06:00
CRDT- 2017/03/27 06:00
PHST- 2016/06/08 [received]
PHST- 2017/03/07 [revised]
PHST- 2017/03/08 [accepted]
AID - S1059-1311(17)30180-2 [pii]
AID - 10.1016/j.seizure.2017.03.006 [doi]
PST - ppublish
SO  - Seizure. 2017 Apr;47:87-91. doi: 10.1016/j.seizure.2017.03.006. Epub 2017 Mar 9.

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