2^nd International Conference on Epilepsy & Treatment October 20-21, 2016 Rome, Italy

Biography:

Lucio Parmeggiani graduated in Medicine in Bologna in 1989. He was Resident in Neurology at Bellaria Hospital in Bologna, (1989-1993), and in Child Neurology at Stella Maris Hospital in Pisa (1997-2002). He completed his PhD at Bologna University in 1997. He was Researcher at Loyola University in Chicago (1991-1992), worked as a Neurology Consultant at King’s College Hospital in London (1999-2001), and as Clinical Neurophysiologist at Great Ormond Street Hospital in London (2001-2003). Since 2006, he has been working as a Child Neurologist at Bozen Regional Hospital in Bolzano, Italy. He has published more than 30 papers in reputed journals.  

Abstract:

Nonconvulsive status epilepticus (NCSE) is described in children affected by non-progressive encephalopathy, mainly presenting as long-lasting episodes of alteration of contact, associated with myoclonic jerks or other movement disorder. Most children are affected by genetic syndromes (i.e. Angelman syndrome, Wolf Hirschhorn syndrome), developmental cortical malformation, or fetal/ neonatal anoxic injury. Recognition of NCSE in such disabled children can be very difficult and often tardive. Treatment of NCSE is notoriously difficult, as it is usually resistant to antiepileptic drug. We present 2 children with non-progressive encephalopathy and epilepsy, who developed NCSE. First patient is a 5 year-old girl affected by Rett syndrome, due to MCP2 mutation and symptomatic generalized epilepsy. At age 4 year 6 months, she gradually developed a NCSE characterized by worsening of eye contact and deambulation in a period of several weeks. EEG showed continuous and diffuse slow spike-and-wave discharges. She was treated for her epilepsy with a combination of drug including carbamazepine (CBZ). Rapid CBZ withdrawn and levetiracetam introduction was followed by resolution of NCSE in a week. Second patient is 10 year-old girl affected by Down syndrome, left temporal desmoplastic infantile ganglioglioma, surgically treated, and Lennox-Gastaut syndrome. During a lung infection, she gradually developed a tonic status epilepticus characterized by recurrent, subtle axial tonic seizures for several hours, which were recognized with video-EEG recording. NCSE proved resistant to benzodiazepines and phenobarbital, but remitted with phenytoin iv.

Biography:

Eleonora Palma has completed her PhD in Biophysics in 1996 at University of Rome Sapienza, and she was a Post-doc Fellow at University of Geneva. She is Associate Professor of Physiology at University of Rome, Faculty of Pharmacy and Medicine. She is a Physiologist with a special interest in neurological diseases. Recently, she studied the GABAergic dysfunction in human epilepsies using different electrophysiological approaches and focused her interest on the role of neuroinflammation in human and experimental epilepsies. Thanks to different national and international collaborations, she published more than 50 papers in international peer-reviewed journals.

Abstract:

Neurotransmitter receptors have fundamental roles during physiological development, as a complex interplay between glutamatergic and GABAergic systems takes place throughout maturation. In particular, it is now a well-established notion that brain development is promoted by a peculiar action of GABA current that contributes to enhance neuron growth and synapse formation. Furthermore, there is a strong time-dependent expression of all the actors of the GABAergic transmission (namely its subunits, the cation-chloride-cotransporters, its accessory proteins), which is responsible of the modifications of the receptor function observed during maturation. The meaning of GABA_A receptor developmental changes has not been fully understood yet, but several studies have pointed out that an immature state of the GABAergic system can be found in different development-impairing pathologies such as focal cortical dysplasia, tuberous sclerosis complex (TSC) and Down syndrome. Additionally, subjects affected by the aforementioned conditions suffer from different neurologic complications, and among them epilepsy is one of the most common and frequently very difficult to treat, due to the marked drug-resistance associated with neurological malformations. Therefore, these observations not only support the hypothesis that the phenotypes of neurodevelopmental pathologies could depend on the contribution of altered receptor function, but also could pave the way for novel therapeutic approaches.

Biography:

Albisua Sanchez Julio MD, PhD is Head of the Department of Neurosurgery of Fundación Jimenez Díaz in Madrid. He is Professor at the Medicine School of the Universidad Autonoma de Madrid. His epilepsy surgery program is one of the most active programs in Spain. He has authored several publications and book chapters, mainly about temporal lobe epilepsy. He is actually serving as Secretary of the Spanish Society of Functional Neurosurgery (SENFE), Vice-president of the Madrid Neurosurgical Society (SONCAM) and as President of the Spanish Brain Council (SBC-CEC).

Abstract:

Vagus Nerve Stimulation (VNS) belongs to the palliative treatment group of epilepsy. It is aimed to reduce the seizures frequency and severity, but it is uncommon to get a patient seizure free on VNS therapy.

VNS therapy is delivered from an helicoidal electrode surgically placed around one of the vagus nerve in the neck. Left vagus nerve usually preferred, due to the lesser cardiac innervation it has.

VNS electrode is plugged into an implanted generator that can be telemetrically programmed. Surgery is about 2 hours time and present infrequent complications.

VNS therapy can reduce seizures by a 75% in about 30% of patients and by a 50% in almost 50% of them. Secondary effects are usually mild and consists mainly of hoarseness, cough, shortness of breath and paresthesias. They usually appear during stimulation and tend to diminish over time

VNS is indicated in medically refractory seizures that are not amenable to surgical resection.

Biography:

Marija Knezevic Pogancev is a Pediatrician, Neuro-pediatrician, Clinical Neurophysiologist and Epileptologist. She is a full time Professor at University of Novi Sad, School of Medicine and Chief of Department for Developmental Neurology and Epileptology, Child and youth health care Institute of Vojvodina, Novi Sad, Serbia. She is graduated from the Faculty of Medicine, University of Belgrade and Trained in Social Pediatry, Institute for Mother and Child Health Care, Belgrade, Trained in Mental Hygiene, Institute of Mental Health, Belgrade. She did her Master’s degree in Neuro-pediatry, Faculty of Medicine, University of Novi Sad and Specialization in Pediatry, Institute for Mother and Child Health Care, Belgrade. She was trained in Electroencephalography and Neurophysiology, Institute of Mental Health, Belgrade and completed her Sub-specialization in Neurology of Developmental Period, Faculty of Medicine, University of Novi Sad, and Scientist Doctor Degree.

Abstract:

Decision to withdraw of antiepileptic drugs must be based on a balanced view of the overall risk of seizure relapse, the factors most likely to affect that risk, and the medical, emotional and social implications of antiepileptic drug treatment. It’s hard to decide to start discontinuation of antiepileptic drug treatment in children with cerebral palsy, even its accepted children with cerebral palsy and epilepsy have essentially the same risk for seizure relapse after antiepileptic drug treatment discontinuation when compared with other epileptic children. Polytherapy necessary for reaching stable epileptic seizure control with (RR 1,39), and polytherapy at the time of starting antiepileptic drugs tapering, (RR 1,62) are factor we could identify that significantly increases the risk of relapse after discontinuation of antiepileptic drug treatment in children with cerebral palsy and epilepsy. Discontinuation of AEDs in children with epilepsy and cerebral palsy who have seizure remission periods of 3 or more, using one antiepileptic drug can, and should be, practiced when possible.

Biography:

Mzia G Zhvania has completed her PhD from Institute of Brain, Russian Academy of Medical Science and ScD from Javakhishvili Tbilisi State University. She is Professor of Neurobiology at Ilia State University and Head of Department of Brain Ultrastructure and Nanoarchitecture at Ivane Beritashvili Center of Experimental Biomedicine, Tbilisi, Georgia. She has published more than 50 papers in reputed journals and international editions and has been serving as an Editorial Board Member of several scientific journals.

Abstract:

In the present research, using transmission electron microscope, we elucidate the ultrastructure of neurons, synapses, glial cells and porosome complex in hippocampal CA1 and CA3 areas of adult male Wistar rats with pentylentetrazol- and kainic acid-induced status epilepticus; the mechanism of action of these proepileptic drugs differ. Kainic acid, structural analogue of glutamate, induces temporal lobe epilepsy-like state (the most common form of epilepsy in humans), excitotoxicity and neuronal cell death. The exact mechanism of pentylenenrazol action is not well-known. Several mechanisms should be involved. One of such mechanisms is its action on GABAA receptors, which are actively involved in epileptogenesis. In comparing with kainic acid administration, pentylentetrazol-induced status epilepticus does not provoke cell loss or the cell loss is insignificant. The development of status epilepticus and other epilepsy-like activities were recorded via video system. The brains were analyzed 2 weeks and 1 month after status epilepticus. The following main results were obtained: (i) kainic acid-and pentylentetrazol-induced status epilepticus provoke ultrastructural alterations in both areas of the hippocampus; in both cases alterations were more significant in the CA1 area. Some alterations are irreversible; (ii) there is direct association between the degree of seizure activities and the level of modifications; (iii) kainic acid provokes more large modifications than pentylenentrazzol-associated status epilepticus; (iv) at both experimental time-points the alterations were almost the same; (v) in both models the alterations in mitochondria and dendrites are among the most common, suggesting cell stress and changes to cellular metabolism.

Biography:

Wei Chen is a Licensed Radiologist. She is both MRI and Infectious Disease Chapter Committee Member of Radiology of Chinese Medical Association. She was awarded MD from Tongji Medical School of Huazhong University of Science and Technology in China. She was awarded Master’s degree in Computer Science from Southeastern University in Washington, DC, USA. She earned the Advanced Training in Multimodal Neuroimaging Program offered by University of Pittsburgh and Carnegie Mellon University with funding from National Institutes of Health, and completed a 5 years’ Neuroimaging Post-doctoral Training at University of Massachusetts Medical School, USA. She has published more than 10 papers in reputed journals.

Abstract:

Big data and digital medical technology develop rapidly. Analysis turning from “base on the past” to “for the coming future” is an important part of personalized medicine including personalized epilepsy diagnosis and treatment. Evidence–based and precise radiology plays a pivotal role in the diagnosis of pre-surgical patients with temporal lobe epilepsy (TLE). Electronic databases including Cochrane database, PubMed, national guideline clearinghouse provided the objective data for evidence reasoning. Image data processing (IDP) platform offered an integrated data analysis environment for efficient and collaborative biomedical image storage, analysis and visualization, which can improve workflow and enhance efficiency. A disease-specific and patient-oriented noninvasive MRI such as diffusion tensor imaging (DTI) tractography and functional connectivity map helped us to better characterize TLE and ultimately assisted in providing a better diagnosis and more accurate invasive treatments of TLE. MRI enables us an individualized, personalized precision medical imaging, which is an important precondition for clinical 3D printing and precise epilepsy invasive treatments. In future, precision medical diagnosis and treatment would lead the new trend of heath management in patients with epilepsy.

Biography:

Pablo R Moya has completed his PhD from Universidad de Chile and Post-doctoral studies from National Institute of Mental Health, USA. He is Associate Professor at Universidad de Valparaíso, Chile leading the Neurogenetics Lab and Deputy Director of Nucleo Milenio Biología de Enfermedades Neuropsiquiátricas nuMIND, a Center of Research Excellence in Chile. He has published more than 20 papers in reputed journals and has been serving as an Editorial Board Member of repute.

Abstract:

Epilepsy affects 1-2% of population worldwide. Despite treatment, about 1/4 of probands develop drug-resistant epilepsy (DRE). Polymorphisms of multidrug pumps in blood brain barrier have been linked to DRE, particularly on ABCB1 and ABCC2 genes. Our aim was to search for association between ABCB1 and ABCC2 polymorphisms and DRE in Chilean probands. Epilepsy probands (n=140), diagnosed with according to ILAE were classified in two groups; those who qualified within DRE diagnosis (two or more trials of adequately chosen and tolerated drugs without seizure freedom within one year) and drug responsive probands. All probands were interviewed to recollect clinical and epidemiological data. Genomic DNA was extracted by standard lysis buffer procedure from saliva samples. Determination of ABCB1 C3435T and ABCC2 c.-24C>T polymorphisms was performed by PCR-RFLP, as previously reported in literature. We successfully replicated the SNP calling methodology described using commercial human DNA panels. Allelic distribution of ABCB1 and ABCC2 polymorphisms do not significantly vary from those reported in literature and UCSC Genome browser. To date, our data indicate that both ABCB1 C3435T and ABCC2 c.-24C>T have similar allelic distribution in Chilean epilepsy probands to those reported in literature. Patient recruitment is ongoing, and determination of SNP frequency is currently underway. We are currently determining putative differences in allele frequencies in drug-resistant vs. responders epilepsy patients.

Biography:

Maja Milovanovic is working as Neurologist, Electroencephalographer and Epileptologist. She finished her Post-graduate Master’s degree studies and PhD studies of Neurology at the School of Medicine, University of Belgrade. Her current position is Deputy Director of the Institute of Mental Health in Belgrade and Head of Department for Epilepsy and Clinical Neurophysiology. She is member of Presidency of Serbian Society for Clinical Neurophysiology Chapter of the International Society of Clinical Neurophysiology. Special fields of her interest are epilepsy, psychiatric comorbidity and quality of life.

Abstract:

Subgroup of patients with epilepsy may develop interictal dysphoric disorder (IDD)-intermittent and pleomorphic affective-somatoform disorder with 8 key symptoms grouped in 3 major categories: Labile depressive symptoms (depressive mood, anergia, pain and insomnia), labile affective symptoms (fear, anxiety) and supposedly “specific” symptoms: Paroxysmal irritability and euphoric moods). Purpose of study was to assess prevalence IDD in patients with epilepsy and with migraine; and to evaluate influence of IDD on quality of life in patients with epilepsy. Adult patients with definite diagnosis of epilepsy or migraine were assessed with interictal dysphoric disorder inventory (IDDI). Beck’s depression inventory (BDI), Beck’s anxiety inventory (BAI), and QOLIE-31 (Serbian version). In 89 patients with epilepsy (mean age 46.3±14.6; female 58.2%), prevalence of IDDI definite diagnosis was 12%, similar as in 67 patients with migraine (11%) (Mean age 38.7±13.4; female: 78.3%). IDDI affective scores were significantly higher in migraine than in epilepsy patients (p=0,017). In epilepsy group, IDDI total and partial affective score displayed a significant positive correlation with BDI and BAI scores. In migraine, group IDDI total score was highly positively correlated with BDI and BAI scores. QOLIE-31 total score was significantly negatively correlated with: IDDI total score (r=-0.355), IDDI depressive scores (r=-0.276) and IDDI affective scores (r=-0.415). IDD is not specific for patients with epilepsy but has some differences compared to migraine patients. IDDI total score, especially labile depressive symptoms and affective symptoms have significant influence on quality of life in patients with epilepsy.

Biography:

Jehan Suleiman is a Consultant Pediatric Neurologist at Tawam Hospital in UAE, and Assistant Professor at the UAE University. She is the Founder of Emirati Pediatric Neurology Network. She completed her training at the Children Hospital at Westmead in Sydney, Australia. She holds the Fellowship of Royal Australasian College of Physicians in Pediatric and Pediatric Neurology. She has completed her PhD in Medicine from the University of Sydney in the area of Autoimmune Epilepsy. She has many leading publications in this field in high impact journals. She is invited as a speaker to many national and international conferences. Her clinical and research areas of interest include neuroimmunology, complex epilepsy and neurogenetics.

Abstract:

Genetic testing including next generation sequencing have been increasingly used in the diagnosis of children with neurological disorders, including severe epilepsies and epileptic encephalopathy, intellectual disability and unexplained motor disorders. Here we report two pediatric cases from different consanguineous Emirati families. They both had early onset global developmental delay, quadriplegia and growth restriction. In addition, they both had epileptic encephalopathy and West syndrome. Case one had microcephaly and optic atrophy but normal MRI, while case two had cortical malformation in the form of polymicrogyria. Case two also had ventilator dependency and respiratory failure. Homozygous mutations involving the WWOX gene were found on whole exome sequencing in both cases (deletion affecting exons 3 to 4 in case one, and splice-site mutation c.606-1G>A in case two). Parents were heterozygous for the involved mutations, which confirm an autosomal recessive pattern of inheritance. WWOX is a cytoplasmic protein involved in many cellular processes including growth, differentiation and tumor suppression. WWOX mutations are reported in different human cancers. More recently WWOX mutations were described in a few cases with spino-cerebellar ataxia associated with epilepsy and mental retardation, a case of severe syndrome of growth retardation, microcephaly, epileptic seizures, optic atrophy, retinopathy and early death, a case of spasticity microcephaly seizures optic atrophy and psychomotor retardation, which is very similar to our 2 cases. The findings in our patients expand the phenotype associated with WWOX genetic abnormalities and confirm previous associations with microcephaly spasticity psychomotor retardation seizures and more importantly as a gene associated with epileptic encephalopathy and West Syndrome.