p57 – 1731 a case of early onset epilepsy due to duplication of the sodium gene cluster on 2q24...

E U R O P E A N J O U R N A L O F P A E D I A T R I C N E U R O L O G Y 1 7 s ( 2 0 1 3 ) S 1 – S 1 4 9 S69

classified IGE. Most of the patients (68%) were seizure free, 725on monotherapy. The antiepileptic drugs which were used: val-proate followed by lamotrigine, levetiracetam and ethosuxymide.Conclusions: IGEs constituted 26% of cases in a largely cohortof pediatric epilepsy patients. Childhood Absence Epilepsy andJuvenile Myoclonic Epilepsy represents the majority of IGE cases.68% of IGE achieved remission with AED therapy, mostly with asingle drug.

P55 - 1743The epilepsy phenotype in septo-optic dysplasia (de Morsiersyndrome)

Tarta-Arsene O, Leanca M, Barca DG, Craiu D. Department ofPediatric Neurology, Clinical Hospital ”Al. Obregia”, Bucharest,Romania – otartaarsene@yahoo.com

Purpose: Septo-optic dysplasia, also know as De Morsier syn-drome is a rare congenital syndrome involving variable midlinebrain structures, characterized by visual impairment, pituitarydeficiencies, and specific brain abnormalities (absence of the sep-tum pellucidum and corpus callosum). The phenotype is highlyvariable and the clinical presentation may be mild or extremelysevere. Purpose of this paper is to present 2 clinical cases withepilepsy phenotype in Morsier syndrome. Methods and results: 2girls diagnosed with Morsier syndrome have epilepsy syndrome.Clinical examination shows visual disturbances (nystagmus inboth patients) and left ptosis in one girl, left hemiparesis in onegirl, mild mental retardation in one girl and normal intelect inthe other, left hypoacusis in one girl. They have all focal seizures,but one of them (the most affected one) has also generalizedtraits on EEG with photosensitivity. MRI shows optic nerve hy-poplasia and hypoplasia of the corpus callosum and left renalagenesis. Antiepileptic treatment was started, but seizures arepartial controled by treatment with decreased in frequency ofseizures, but still EEG discharges. Conclusions: De Morsier syn-drome is a rare syndrome associated with epilepsy and differentclinical and EEG traits.

P56 - 1738Anti-inflammatory treatment can reduce spontaneous recurrentseizure and depressive behavior in rats

You SJ, Pineda E, Shin D, Mazarati A, Sankar R. Department ofPediatrics, Sanggye Paik Hospital, Inje University College of Medicine,Seoul, Republic of Korea – sjyou@paik.ac.kr

Objectives: Recent experimental evidence and clinical observa-tions suggest that the inflammatory process involved the patho-genesis of various neurologic diseases including epilepsy and itsrelated morbidity and some kind of anti- inflammatory treat-ments can prevent inflammatory process in brain and reducespontaneous recurrent seizures (SRS) and improve symptomsof epilepsy related depression and migraine. However, controver-sies are still remained. So, we assessed whether epileptic seizuresand epilepsy-related depression can be prevented or reduced by 2weeks of treatment with the anti- inflammatory drugs (AIDs) CAY10404, a COX-2 inhibitor and recombinant IL- 1Ra in 34-day-oldmale Wistar rats with LiPC-induced SE. Methods: The rats weredivided into two groups, with one group injected with AIDs andthe other control group injected with the same volumes of DMSOand saline, 1 hour before administration of pilocarpine. Results:The frequency of SRS was significantly lower in the AIDs treatedthan in the control group. Immobility time in force swim testwas significantly lower in the AIDs treated than in the controlanimals. Timm staining was rarely observed in AIDs treated ratsbut was clearly discernible in the inner layer of rats in the controlgroup. The mean gray value difference scores were significantlygreater in the control than in the AIDs treated group. Conclusion:

we found that the administration of a COX-2 inhibitor and re-combinant IL-1Ra, starting before the induction of SE, attenuatedthe development of SRS and depressive behavior and inhibitedmossy fiber sprouting in rats.

P57 - 1731A case of early onset epilepsy due to duplication of the sodiumgene cluster on 2q24 with early seizure remission

Gnidovec Strazisar B, Rener Primec Z, Writzl K. Department ofChild, Adolescent and Developmental Neurology, University Children’sHospital, Ljubljana, Slovenia – barbara.gnidovec@mf.uni-lj.si

Objective: In contrast to point mutations and deletions, duplica-tions of multiple sodium channel genes are less frequent causeof epileptic disorder. So far only nine patients with early on-set epilepsy and 2q24 duplication involving the sodium channelgene cluster were described. They all presented with severeseizures that were refractory to antiepileptic treatment. We re-port another case of early onset epilepsy in association with2q24 microduplication in whom seizure were well controlled inless than three-week time. Case report: Patient presented withtonic seizures shortly after birth. Despite several seizures dailythe episodes were firstly not recognized as convulsions. Her firstEEG was performed at the age of 5 weeks and showed promi-nent slowing and asymmetry of the background activity withmultifocal epileptic discharges. The seizures were resistant tolevetiracetam but with the introduction of topiramate and viga-batrine seizure remission was achieved in less than three weeks.Background EEG activity improved significantly with epileptiformdischarges becoming less prominent and final disappearing. De-spite that she experienced mild developmental delay. Extensiveneurometabolic evaluation was normal and early MRI showedthinning of the corpus callosum. Subtelomeric FISH analysisshowed a microduplication in the 2q24.2.2q24.3 region that waslater confirmed with array comparative genomic hybridizationrevealing a 11.64-Mb duplication of 2q24.2q31.1 region that in-cluded also a cluster of voltage-gated sodium channel genes(SCN1A, SCN2A, SCN3A). Conclusion: Our case confirms that du-plication involving the sodium channel gene cluster on 2q24 isassociated with early onset epilepsy, which however may not bealways very resistant since we were able to achieve early seizureremission despite late introduction of antiepileptic treatment.

P58 - 1716Management of epilepsies combining antiepileptic drug therapyand various modalities of alternative therapies

Zubcevic S, Sabic A. Paediatric Hospital, Clinical Centre, University ofSarajevo, Bosnia and Herzegovina – smail.zubcevic@gmail.com

Management of epilepsies combining antiepileptic drug (AED)therapy and various modalities of alternative therapies is stillcommon, but scientifically ignored. The aim of this study (partof ongoing study on socioeconomic aspects of epilepsy) was toexamine profile of parents applying such approach. Educationallevel, socioeconomic status, alternative treatments, factors in-volved in the formation of such a decision were investigated, andmultivariate analyses were done. Compliance with AED regimewas assessed by interview and measurement of AED serumconcentrations where appropriate. 84 parents filled structuredquestionnaires in this part of study. 56% parents consideredsuch management approach, only 27% actually applied it. Therewas one case where child promptly gained complete control ofseizures with AED, in others epilepsy control was not gainedin first 3 months. There was no significant difference of edu-cational level. Slightly higher proportion of such practice wasobserved in rural areas, but the difference was not significant.Decision to try with alternative treatments was often result of