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


CONCLUSIONS
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.
Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic address: alberto.verrottidipianella@univaq.it.
Alberto
A
Verrotti
Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic address: fiammetta.sertorio@gmail.com.
Fiammetta
F
Sertorio
Department of Pediatrics, University of Chieti, Chieti, Italy. Electronic address: sara.matricardi@yahoo.it.
Sara
S
Matricardi
Institute of Pediatrics, Catholic University, Roma, Italy. Electronic address: pietro.ferrara@unicatt.it.
Pietro
P
Ferrara
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: strianop@gmail.com.
Pasquale
P
Striano
D025063:Chromosome Disorders / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology* / Q000628:therapy; D002884:Chromosomes, Human, Pair 15; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D006801:Humans
EEG; Epilepsy; InvDup 15; Seizures