Day :
- COVID-19 and Epilepsy | Epilepsy in Pediatrics | Ketogenic Diet | Epilepsy Therapeutics & Drug Therapy | Advanced Epilepsy Diagnosis Assessment
Location: webinar
Session Introduction
Razia Adam Kadwa
Ankura Hospital for Women and Children, India.
Title: Novel mutation of ATP6V1A gene associated with Infantile spasms and Microcephaly
Time : 09:00-09:20
Biography:
Razia Adam Kadwa attained her MD-Pediatrics, DM Pediatric Neurology. She is Currently working as Consultant Pediatric Neurologist at Ankura Hospital for Women and Children, Hyderabad , India.
Abstract:
We describe a seven-month-old boy who presented with flexor spasms of two weeks duration. He was first born child to unrelated parents. Term delivery with uneventful pregnancy and normal development milestones till seven-months of age. On examination he had small head with closed anterior fontanels. EEG was suggestive of hypsarrythmia with multifocal inter ictal discharges.
Etiologic investigations: Magnetic resonance imaging (MRI), chemical and physical examination of cerebrospinal fluid, pyruvic acid and lactic acid on plasma and cerebrospinal fluid, plasma and urinary aminoacids, urinary organic acids, CSF glycine and aminoacids , biotinidase levels were normal. Exome sequencing of a multigene epilepsy panel for EIEE detected ATP6VA1 mutation.
Child was treated with ACTH with complete cessation of spasms however he had recurrence after five months of stopping steroids. Currently he is on multiple anti epileptic drugs with partial response. Four cases with ATP6V1A mutations have been reported till date, all of them had preexisting developmental delay and fever associated seizures, followed by epileptic encephalopathy. This child was developmentally normal and there were no episodes of fever triggered seizures. He presented with infantile spasms and neuroregression followed by refractory seizures. This is the first case report of ATP6V1A mutation presenting as infantile spasms and refractory Epilepsy in a developmentally normal child. The present case adds to the few cases of epileptic encephalopathies so far reported that were caused by ATP6V1A gene mutations and expands the clinical spectrum of ATP6V1A mutation associated epilepsy.
Muhammad Ali Rajput
Multan Medical & Dental College, Pakistan
Title: Antiepileptic activity of Nelumbo nucifera fruit
Time : 09:20-09:40
Biography:
Muhammad Ali is the young researcher and Medical doctor from Pakistan who has attained PhD and MPhil degrees in Pharmacology from University of Karachi, Karachi and MBBS degree from Liaquat University of Medical & Health Sciences Jamshoro, Pakistan. He is also a member of American Society of Pharmacology and Experimental Therapeutics i.e. ASPET. He is well oriented with scientific writing and has so far published 17 articles in journals of international repute which have been cited over 55 times and many articles are under peer review process. His research interest many encompasses Neuropharmacology and clinical Pharmacology. He has a teaching experience of more than 12 years and currently serving at Multan Medical & Dental College, Multan, Pakistan as Associate Professor in the Department of Pharmacology. He has attended many national & international conferences as speaker and OCM at various occasions.
Abstract:
Epilepsy is the most commonly encountered neurological disorder affecting around 70 million people worldwide, out of which approximately 80% belongs to developing countries. Several shortcomings appeared with the use of conventional antiepileptic agents like, inadequate seizure control, side effects and cost which limit their use. Thus extensive studies are necessary to investigate the pharmacological effects of plants, which would facilitate discovery of novel drugs from herbal source permitting their use to benefit mankind. Hence current study was focused to evaluate the antiepileptic potential of Nelumbo nucifera fruit (NNF) in order to ascertain its therapeutic potential. Anti-epileptic activity was assessed using strychnine induced seizure model in 35 male Wister rats divided in five groups i.e. control, reference and 3 test groups. Each group was composed of 7 animals and was given 2% gum tragacanth (control), diazepam 1 mg/kg PO (reference) and NNF 50, 100 and 200 mg/kg PO (test) OD for 15 days. NNF extract at 200 mg/kg exhibited extremely noteworthy delay in the inception of convulsions as compared to control however duration of convulsions was increased significantly but intensity of convulsions was reduced resulting in better survival rate i.e. 42.85% which was comparable to diazepam. Therefore it can be concluded that NNF may be valuable in managing epilepsy but further preclinical and clinical trials are required to confirm these findings.
Anna Voitiuk
Kharkiv Medical Academy of Postgraduate Education, Ukraine
Title: Epilepsy and COVID-19: Tactics of treatment
Time : 09:40-10:00
Biography:
Anna Voitiuk has graduated from Kharkiv National Medical University in 2013 with major in General Medicine. From 2013 till 2015 she studied as a Postgraduate student in Neurology at Kharkiv Medical Academy of Postgraduate Education. During her residency she has shown interest and enthusiasm in treating patients with disorder of cerebral circulation, epilepsy etc. She studied at the EAN Spring School and got a certificate about finishing in 2017. She also studies the features of the EEG and EEG-video-monitoring. She has got a second education in V. N. Karazin Kharkiv National University with major Philology with honours in 2018. Currently she is a qualified Neurologist. She is an active participant in case report discussions and always ready to suggest original solutions. She takes active part in scientific conferences, for example, in Washington, New Orleans, Vienna, Barcelona, Rome, Madrid etc. She has scientific publications in different journals.
Abstract:
Coronavirus disease 2019 (COVID-19) is an infectious disease caused by Severe Acute Respiratory Syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 is a single-stranded zooanthroponous RNA virus belonging to the genus Betacoronavirus to the subgenus Sarbecovirus. There are 3 strains: A, B, and C. The virus primarily spreads between people through close contact and via respiratory droplets produced from coughs or sneezes. It mainly enters human cells by binding to the receptor Angiotensin Converting Enzyme 2 (ACE2). SARS-CoV-2 may also cause respiratory failure through affecting the brainstem as other coronaviruses have been found to invade the central nervous system (CNS). While virus has been detected in cerebrospinal fluid of autopsies, the exact mechanism by which it invades the CNS remains unclear and may first involve invasion of peripheral nerves given the low levels of ACE2 in the brain. One of the brain diseases is the epilepsy. During treatment, the compatibility of epilepsy drugs and COVID-19 should be taken into account. In some cases, the co-use of AEDs and antiviral and antibacterial preparations may lead to and exacerbate adverse events such as cardiotoxicity and hepatotoxicity, and in some cases, when using benzodiazepine-type preparations, the appearance or aggravation of already existing respiratory disorders. The interactions between AEDs and COVID-19 drugs must also be considered. It is also necessary to consider the interaction of AEDs and drugs for the treatment of COVID-19, which affect cardiac conduction, QT interval, etc. The enzyme inducing AEDs can induce many drugs to treat COVID-19, and in turn these drugs can enhance the elimination of AEDs, which can provoke an increase and/or resumption of seizures. Drug-drug interactions and adverse drug reactions of AEDs and anti-COVID-19 therapies could pose significant therapeutic challenges. Therefore, it is important to consider any and all adverse effects and drug interactions in patients with epilepsy, who become infected with SARS-CoV2 and need treatment for COVID-19.
Yevhen Tantsura
V.N. Karazin National University, Ukraine
Title: Influence of the COVID-19 pandemic on the quality of life of families with children suffering from epilepsy in Ukraine
Time : 10:00-10:20
Biography:
Yevhen Tantsura affiliated with V.N. Karazin National University, Kharkiv, Ukraine. He has published seleval articles in many reputed Journals.
Abstract:
Statement of the Problem: Childhood epilepsy is one of the most common diseases of the CNS. From the point of view of optimizing care for children with epilepsy and their families during and after the crisis caused by the COVID-19 pandemic, very important is not only the high frequency and severity of the pathology, but also its social consequences - stigmatization, some isolation of the child in many cases and economic aspects, due to the need for long-term, continuous use of antiepileptic drugs.
Methodology & Theoretical Orientation: In view of the above, the aim of the study was to identify the most significant and acute problems of families and patients associated with the COVID-19 pandemic. An electronic version of a specially designed questionnaire for parents (guardians) of children with epilepsy was used to gather information. Information was collected on 133 families with children with epilepsy aged from 3 months to 18 years, 55.6% of the group was boys and 44.4% were girls. In 95.5% of cases, the questionnaire was completed by the patient's mother. COVID-19 was diagnosed in 1 child with epilepsy, and no cases of the disease were reported in either parents or other relatives. 36.1% of families are still in quarantine, 15% have already returned to normal life, 48.9% of families according to the survey were not in quarantine. We noted that the impact of the crisis caused by COVID-19 is most significant in terms of financial condition of families - 48.1%, psychological climate - 24.1%, household and organizational issues - 24.8%. Deterioration of the financial condition of families was noted by 64.7% of respondents.
Conclusion & Significance: The results showed that the most significant for the families of children with epilepsy during the COVID-19 pandemic are financial problems and issues of ensuring continuous use of antiepileptic drugs.
Luigi Vetri
University of Palermo, Italy
Title: The role of Whole Exome Sequencing in the diagnosis of Epileptic encephalopathies
Time : 10:20-10:40
Biography:
Luigi Vetri is a physician and researcher at Department of Sciences for Health Promotion and Mother and Child Care “G. D'Alessandro,” at University of Palermo. He has been collaborating for two years with Oasi Research Institute-IRCCS in Troina in the field of congenital and inborn causes of intellectual disabilities and neurodevelopmental disorders.
Abstract:
Objective: Epileptic encephalopathies are a devastating group of electroclinical syndromes with early onset of drugâ€resistant seizures in which the epileptiform abnormalities may contribute to progressive dysfunction or developmental stagnation and consequent cognitive and behavioral impairments. A genetic etiology can be identified in a considerable proportion of patients with epileptic encephalopathy. Most have de-novo dominant mutations, but a growing proportion of patients has a polygenic inheritance in which the interaction of several genetic variants is responsible for the phenotype. The increased efficiency and the reduced cost of next-generation sequencing tests promoted their implementation into the routine diagnostic process. Whole-exome sequencing (WES) is a technique for comprehensively sequencing all the protein-coding regions of the genome (~20,000 genes). It has proven successful in identifying undiagnosed genetic disorders in many patients with a broad phenotypic spectrum.
Methods: We report our experience in the use of WES as a first-tier molecular test in 40 patients with undiagnosed epileptic encephalopathies at Oasi Research Institute-IRCCS, Troina, Italy. The test was performed on probands and their unaffected parents (trio analysis). Each genetic variant found has been compared to known variables in main polymorphism and mutation databases and a deeply in silico analysis for predicting pathogenicity was performed. All variants found were confirmed by sanger sequencing.
Results: About a third of patients received a genetic diagnosis. And WES proved to have a good cost-effectiveness ratio. Our data highlight the clinical utility and feasibility of WES in individuals with undiagnosed forms of epileptic encephalopathies.
Pranshu Bhargava
All India Institute of Medical Sciences, India
Title: Dysembryoplastic neuroepithelial tumor (DNET) :A rare cause of surgically treatable Epilepsy
Time : 10:40-11:00
Biography:
Pranshu Bhargava is well experienced in performing most of spine and brain surgeries. This includes brain tumors (open as well as stereotactic procedures and trauma). He is trained in functional and stereotactic neurosurgery .Recently engaged in developing pediatric neurosurgery as a subspecioality in state of Uttarakhand ,India . This will cater to patients congenital malformations, trauma tumors and also involve epilepsy surgery.
Abstract:
Introduction: Dysembryoplastic neuroepithelial tumor (DNET) is a rare cause of intractable epilepsy and has excellent results in terms of seizure control, after surgical resection. We present one such case, because of its rarity and to highlight the effect of tumor removal on seizure control, particularly for DNET.
Materials and methods /Case summary: A 9-year-old male patient presented with sudden onset partial seizures for the past six months. there were 5 episodes. Each episode patient had irrelevant talk followed by deviation of mouth to left and twitching movements. The episode lasted 5 minutes and there was no loss of consciousness. There was no aura or tongue bite, in one of the episode’s patient lost consciousness. There was no other significant positive history. On examination child was conscious alert oriented, without focal neurological deficit or features of meningitis. There was no papilledema. Patient was on phenytoin sodium, phenobarbitone and clobazam Magnetic Resonance Imaging(MRI) of brain was done with and without contrast. MRI revealed a lesion about 4.1*3.6*3.2 cm in the right medial temporal lobe. It was hypo intense to brain on T1 and FLAIR, hyper intense on T2 weighted images. Diffusion restriction was present and there was minimal contrast uptake. There was no evidence of mass effect or midline shift After discussing the risks and benefits with parents, patient underwent Pre anesthetic checkup and was taken up for craniotomy and excision of tumor. Gross total excision was done. Child was started orally on Day 1 post operatively and ambulated. there were no further seizure episodes. Patient was continued on phenytoin and clobazam, phenobarbitone was tapered gradually. At 6 months’ child was seizure free.
Conclusions: DNET are rare tumors occurring early in life, presenting with intractable seizures. Surgical resection offers a good and safe chance to long term seizure control.
Jinwei Zhang
University of Exeter, UK
Title: Activation of K+–Cl-–cotransporter KCC2 by inhibiting the WNK-SPAK kinase signalling as a novel therapeutic strategy for Epilepsy
Time : 11:00-11:20
Biography:
Jinwei Zhang has a long track record of ground-breaking discovery in the field of cellular chloride homeostasis and cell volume regulation. He has published over 45 articles in peer-reviewed journals (with 20 first-author or corresponding author, total citations of 1600, h-index 20), including several in the highest impact journals, including Nature Medicine, Cell Metabolism, Neuron, and Nature Communications. Dr Zhang then made fundamental discoveries regarding the role of WNK-SPAK/OSR1-NKCC1/KCCs signalling pathway in Cl- homeostasis through KCC2Thr906/1007 and NKCC1 Thr203/207/212 phosphorylation.
Abstract:
The Cl--extruding transporter KCC2 (SLC12A5) critically modulates GABAA receptor signaling via its effect on neuronal Cl- homeostasis. Previous studies have shown that KCC2 was downregulated in both epileptic patients and various epileptic animal models. We discovered that the in vitro dual phosphorylation of Thr906 and Thr1007 in the intracellular carboxyl (C)-terminal domain of KCC2, mediated by the Cl--sensitive WNK-SPAK serine-threonine protein kinase complex, maintains the depolarizing action of GABA in immature neurons by antagonizing KCC2 Cl- extrusion capacity. GABAAR-mediated inhibition confines KCC2 to the plasma membrane, while antagonizing inhibition reduces KCC2 surface expression by increasing the lateral diffusion and endocytosis of the transporter. This mechanism utilizes Cl- as an intracellular secondary messenger and is dependent on phosphorylation of KCC2 at threonines 906 and 1007 by the Cl- -sensing kinase WNK1. We propose this mechanism contributes to the homeostasis of synaptic inhibition by rapidly adjusting neuronal [Cl-]i to GABAAR activity. We further demonstrate here that this signaling pathway is rapidly and massively activated in an acute epilepsy model. This indicates that dephosphorylation of KCC2 at Thr906 and Thr1007 is a potent activator of KCC2 activity, and small molecular targets WNK-SAPK kinase signaling may be a novel therapeutic strategy for epilepsy.
Amal Al-Bluwi
Prince Mohammed Bin Abdulaziz Hospital, Saudi Arabia
Title: Trip of The Tongue: Foreign Accent Syndrome
Time : 11:20-11:40
Biography:
Amal Al-Bluwi is a Neuropsychologist in Mental Health Department at Prince Mohammad Bin Abdulaziz Hospital - Riyadh, from (05/3/2018) till now. Has Master of Science in Human Cognitive Neuropsychology, Department of Psychology, from the University of Edinburgh – United Kingdome. "Memory Binding in Temporal Lobe Epilepsy Patients Post- Surgery", and Master of Arts, Department of Psychology, from King Saud University – Riyadh (1427 H / 2006 G). "Depression and self-concept with late married teachers". Providing WADA Procedure (cognitive assessment during the Intracarotid Sodium Amobarbital) for uncontrolled epilepsy patients who need it pre-surgery, since 2011. Her Research interests are Memory deficits in epilepsy patients, Neuropsychological Assessment of autistic children, Medical related neuropsychological changes.
Abstract:
Foreign accent syndrome is a rare neurological disorder, in which patients develop what appears to be a foreign accent or language caused by damage to the left side of the brain where language is processed. Foreign accent syndrome usually results from a stroke, but can also develop from head trauma, migraines or developmental problems. The condition might occur due to lesions in the speech production network of the brain, or may also be considered a neuropsychiatric condition. Its symptoms result from distorted articulatory planning and coordination processes and although popular news articles commonly attempt to identify the closest regional accent, speakers suffering from foreign accent syndrome acquire neither a specific foreign accent nor any additional fluency in a foreign language. Presenting sample of some real cases, then discussion of the possible scientific explanation of such cases, and finally reviewing some case studies of them.
Mundih Noelar Njohjam
Central Hospital, Cameroon
Title: High prevalence of epilepsy in two rural Onchocerciasis hyperendemic villages in the center region of Cameroon
Time : 11:40-12:00
Biography:
Mundih Noelar Njohjam is a recent graduate with a doctorate degree in medicine from the Faculty of medicine and biomedical sciences of the University of Yaoundé 1 in Cameroon. She is currently a volunteer at the neurology and neuroscience department of the Yaoundé central hospital and Brain Africa Research Initiative in Cameroon. She is also an aspiring physician-scientist in neuroscience with special interest in epilepsy. She has developed a great passion for improving clinical outcomes and patient experience of people with epilepsy in underserved and underdeveloped parts of the world especially in Africa after working with people living with epilepsy in her country.
Abstract:
Background: Recently, there has been mounting evidence from Onchocerciasis-endemic regions that onchocerciasis causes epilepsy. The term Onchocerciasis-associated epilepsy has been used to describe this condition which constitutes an important but neglected public health problem. It leaves sufferers with severe sequelae in many countries where onchocerciasis is still endemic including Cameroon. This study had as main objective to generate baseline data on the prevalence of onchocerciasis-associated epilepsy in two rural villages endemic for onchocerciasis.
Methods: This was a population based cross-sectional study conducted from December 2018 to August 2019 in two rural villages (Mong and Nkongmessa) in the Monatélé health district of the center region of Cameroon. Door-to-door household visits were carried out to screen for persons with OAE. Onchocerciasis-associated epilepsy was defined using criteria predefined in other studies.
Results: One thousand, four hundred and forty-eight (1448) individuals from 202 households were screened. Fifty persons (32 from Mong and 18 from Nkongmessa) met the criteria for OAE. The prevalence of OAE was 1.7% for Nkongmessa and 7.7% for Mong. The mean age for the cases was 26.3 years. The most common seizure type was generalized tonic-clonic seizures (74%) followed by absence seizures (14%). Nodding and Nakalanga syndromes were identified in 2 cases each.
Conclusion: This study revealed a high prevalence of OAE. This novel evidence in the Monatélé health district, adds to the growing body of evidence in Cameroon on the need to provide comprehensive care for onchocerciasis-associated epilepsy and conduct further research to review health policies.
Amanda Cano
University of Barcelona, Spain
Title: Epigallocatechin-3-gallate loaded PEGylated-PLGA nanoparticles: A new anti-seizure strategy for temporal lobe epilepsy
Time : 12:00-12:20
Biography:
Amanda Cano possesses a current position of adjunct professor of Physical Chemistry in the Department of Pharmacy, Pharmaceutical Technology and Physical Chemistry of the Faculty of Pharmacy of the University of Barcelona. She graduated on Pharmacy at the University of Salamanca in 2013 and got her Master’s degree in 2014 at the University of Barcelona. In 2015, she gained a competitive fellowship from the Spanish Ministry of Science and Innovation to perform her Ph.D. at the University of Barcelona, obtaining the Doctor degree in 2018 with an excellent Cum Laude with international mention. In this period, she combined the experimental activity with teaching experience. Recently, she obtained a competitive post-doctoral fellowship from the Spanish Ministry of Science and Innovation to start her post-doctoral studies in the field of clinical evaluation of genetic biomarkers of neurodegenerative diseases.
Abstract:
Temporal lobe epilepsy is the most common type of pharmacoresistant epilepsy in adults. Epigallocatechin-3-gallate has aroused muchinterest because of its multiple therapeutic effects, but its instability compromises the potential effectiveness. PEGylated-PLGA nanoparticles of Epigallocatechin-3-gallate were designed to protect the drug and to increase the brain delivery. Nanoparticles were prepared by the double emulsion method and cytotoxicity, behavioral, Fluoro-Jade C, Iba1 and GFAP immunohistochemistry studies were carried out to determine their effectiveness. Nanoparticles showed an average size of 169 nm, monodisperse population, negative surface charge, encapsulation efficiency of 95% and sustained release profile. Cytotoxicity assays exhibited that these nanocarriers were non-toxic. Neurotoxicity and immunohistochemistry studies confirmed a decrease in neuronal death and neuroinflammation. In conclusion, Epigallocatechin-3-gallate PEGylated-PLGA nanoparticles could be a suitable strategy for the treatment of temporal lobe epilepsy.
Segundo Mesa Castillo
Psychiatric Hospital of Havana, Cuba
Title: Direct evidence of viral infection and mitochondrial alterations in the brain offetuses at high risk for schizophrenia
Time : 12:20-12:40
Biography:
Segundo Mesa Castillo is Specialist in Neurology, he worked for 10 years in the Institute of Neurology of Havana, Cuba. He has worked in Electron Microscopic Studies on Schizophrenia for 32 years. He was awarded with the International Price of the Stanley Foundation Award Program and for the Professional Committee to work as a fellowship position in the Laboratory of the Central Nervous System Studies, National Institute of Neurological Diseases and Stroke under Dr. Joseph Gibbs for a period of 6 months, National Institute of Health, Bethesda, Maryland, Washington D.C. USA, June 5, 1990.
Abstract:
There is increasing evidences that favour the prenatal beginning of schizophrenia. These evidences points towards the intrauterine environmental factors that act specifically during the second pregnancy trimester producing a direct damage of the brain of the foetus. The current available technology doesn't allow observing what is happening at cellular level since the human brain is not exposed to a direct analysis in that stage of the life in subjects at high risk of developing schizophrenia. In 1977, we began a direct electron microscopic research of the brain of foetuses at high risk from schizophrenic mothers in order to find differences at cellular level in relation to controls. In these studies we have observed within the nuclei of neurons the presence of complete and incomplete viral particles that reacted in positive form with antibodies to Herpes Simplex Hominis type-I [HSV1] virus and mitochondria alterations. The importance of these findings can have practical applications in the prevention of the illness keeping in mind its direct relation to the etiology and physiopathology of schizophrenia. A study of amniotic fluid cells in women at risk of having a schizophrenic offspring is considered. Of being observed the same alterations that those observed previously in the cells of the brain of the studied foetuses, it would intend to these women in risk of having a schizophrenia descendant, previous information of the results, the voluntary medical interruption of the pregnancy or an early anti HSV1 viral treatment as preventive measure of the later development of the illness.
Biography:
Joey Gaines was born a perfectly healthy baby boy May 15, 1967, the last of 4 children. Epilepsy was not listed in the familial health history. At age 2, he became ill running a high fever causing seizures. It was not until puberty that it became clear that he had been affected by the illness as a toddler. He became afflicted with grand mal and complex partial seizures. After high school he went to work for his uncle and became a skilled craftsman, a 100 % x-ray welder. He retained his ability to weld even after the surgery and has been actively working his craft for 33 years.
Abstract:
Febrile seizures began the 30 year journey from captivity of seizures to freedom after neurosurgery: Left Anterior Temporal Lobectomy/ Left Hippocampus removal had to be considered for best end result. 80% of patients after surgery were seizure free one year post op and 90% showed marked improvement. It was suspected that he had been having petite mal seizures all along. At age 14 and 16 years of age, he experienced seizure activity that put him into a coma for 3 days leaving him with some memory loss. By the time the “subject” was 32, medication was no longer effective, having approximately 800 seizures a year. It was determined at this time that surgery was his only option if he was to continue to live. Because of the extent of the surgery, it was thought it would leave him a nonfunctioning adult that he would be bound to a wheelchair and unable to care for himself, when he opened his eyes after surgery he had no memory. No memory of the ability to function in everyday living, or who or what people surrounding him in hospital were. He had no memory of family or friends, that he had children or a wife and had difficulty retaining short term memory without continual repetition. But he learned again how to eat, walk, use the toilet and care for his personal needs. He returned to work, drives and lives on his own. The one thing he did retain was his craft as a master welder.