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Epilepsy

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Articles 1 - 30 of 36

Full-Text Articles in Nervous System Diseases

Remarkable Seizure Reduction With Trofinetide Treatment In An Adult With Rett Syndrome: A Case Report, Semihan Adegbite, Pooneh Memar Ardestani, Maromi Nei Aug 2026

Remarkable Seizure Reduction With Trofinetide Treatment In An Adult With Rett Syndrome: A Case Report, Semihan Adegbite, Pooneh Memar Ardestani, Maromi Nei

Department of Neurology Faculty Papers

No abstract provided.


Focal Status Epilepticus In A Patient With Responsive Neurostimulation: A Rare Complication And Management Insights, Ana Leticia Fornari Caprara Md, Jamir Pitton Rissardo, Pranaya Gade, Estefania Joselinne Alba-Rodriguez Md, Eric P. Nagele Md, Salman Assad Md, Islam Fayed Md, Evren Burakgazi-Dalkilic Md May 2026

Focal Status Epilepticus In A Patient With Responsive Neurostimulation: A Rare Complication And Management Insights, Ana Leticia Fornari Caprara Md, Jamir Pitton Rissardo, Pranaya Gade, Estefania Joselinne Alba-Rodriguez Md, Eric P. Nagele Md, Salman Assad Md, Islam Fayed Md, Evren Burakgazi-Dalkilic Md

Rowan-Virtua Research Day

Introduction: Responsive neurostimulation (RNS) is an established therapy for drug-resistant focal epilepsy, yet device-related complications during acute seizures remain underreported. We describe a case of focal status epilepticus in a patient with RNS, illustrating the interplay of possible device malfunction, systemic illness, and medication nonadherence. Case Report: A 39-year-old man with drug-resistant focal epilepsy and schizoaffective disorder, status post right frontal craniotomy and RNS implantation, presented with focal status epilepticus after several days of antiseizure medication (ASM) nonadherence, febrile illness, vomiting, and urinary tract infection (UTI). On admission, he was lethargic with frequent focal seizures (< 30 s) characterized by left head turn, left arm followed by bilateral arm tonic stiffening, and impaired awareness. Continuous EEG confirmed focal status epilepticus. Family declined intubation. A ketamine bolus (20 mg) followed by infusion (0.25–0.5 mg/kg/hr) for 24 hours achieved seizure cessation. Despite broad ASM therapy (phenytoin, zonisamide, perampanel, levetiracetam, clorazepate, cenobamate, carbamazepine, clonazepam, lacosamide), seizures persisted until RNS interrogation revealed high lead impedance; the device was deactivated. ASM doses were optimized, PEG tube placed for consistent delivery, and UTI treated. He stabilized and was discharged to rehabilitation. Conclusion: This case highlights the need for comprehensive evaluation in RNS patients presenting with focal status epilepticus. Device malfunction, systemic illness, and inconsistent ASM adherence can synergistically worsen seizure control. Multidisciplinary management including neurocritical care, device troubleshooting, and nutritional support was pivotal for recovery.


Trends And Disparities In Mortality Involving Epilepsy And Aspiration Pneumonia Among Older Adults In The United States, 1999–2020, Pranaya Gade, Jarvish Shah, Daarsh Goradia, Nishant Patel, Jamir Pitton Rissardo Md, Ana Leticia Fornari Caprara Md May 2026

Trends And Disparities In Mortality Involving Epilepsy And Aspiration Pneumonia Among Older Adults In The United States, 1999–2020, Pranaya Gade, Jarvish Shah, Daarsh Goradia, Nishant Patel, Jamir Pitton Rissardo Md, Ana Leticia Fornari Caprara Md

Rowan-Virtua Research Day

Introduction: Epilepsy in older adults is frequently complicated by swallowing dysfunction, increasing the risk of aspiration pneumonia. Despite its clinical relevance, national trends and demographic disparities in deaths involving these conditions remain poorly characterized. Methods: We analyzed death certificate data from the CDC WONDER Multiple Cause of Death database (1999–2020) for individuals aged ≥65 years with epilepsy (ICD-10 G40, G41) and aspiration pneumonia (J69) listed as causes. Age-adjusted mortality rates (AAMRs) per 100,000 and annual percentage changes (APCs) with 95% confidence intervals were calculated using Joinpoint Regression. Analyses were stratified by sex, race/ethnicity, census region, and state. Results: From 1999 …


Epilepsy, Children's Health School Services Jan 2026

Epilepsy, Children's Health School Services

School Guides

Educator guide about how to support students with epilepsy.


High Energy Consumption Characterizes Abnormal Brain State Transitions In Temporal Lobe Epilepsy, Sam S. Javidi, Qirui Zhang, Ankeeta Ankeeta, Michael R. Sperling, Joseph I. Tracy Sep 2025

High Energy Consumption Characterizes Abnormal Brain State Transitions In Temporal Lobe Epilepsy, Sam S. Javidi, Qirui Zhang, Ankeeta Ankeeta, Michael R. Sperling, Joseph I. Tracy

Farber Institute for Neuroscience Faculty Papers

Temporal lobe epilepsy (TLE) patients experience shifts between non-seizing and seizing brain states, but the structural networks underlying these transitions remain undefined and poorly characterized. We detected dynamic brain states in resting-state fMRI and constructed linked structural networks utilizing multi-shell diffusion-weighted MR data. Leveraging network control theory, we interrogated the structural data for all possible brain state transitions, identifying those requiring abnormal levels of transition energy (low or high) in TLE compared to matched healthy participants (n's = 25). Results revealed three transitions requiring significantly higher energy in TLE; no abnormally low-energy transitions were observed. In HPs, transitions relied on …


Multiple Subcortical And Subcortico-Cortico Dynamic Network Reconfigurations Characterize Focal-To-Bilateral Tonic-Clonic Seizures, Shilpi Modi, A. Ankeeta, Walter Hinds, Michael R. Sperling, Xiaosong He, Joseph I. Tracy Jul 2025

Multiple Subcortical And Subcortico-Cortico Dynamic Network Reconfigurations Characterize Focal-To-Bilateral Tonic-Clonic Seizures, Shilpi Modi, A. Ankeeta, Walter Hinds, Michael R. Sperling, Xiaosong He, Joseph I. Tracy

Department of Neurology Faculty Papers

Temporal lobe epilepsy (TLE) is the most common focal epilepsy, with focal to bilateral tonic-clonic seizures (FBTCS+) a more severe form of the disorder. Evidence has underscored the critical role of the thalamus, mesial temporal region, basal ganglia and cerebellum, along with the cortex, in the propagation, termination, and modulation of seizure activity. We examined time variant patterns of interaction within and between 7 cortical and 4 subcortical systems in 55 healthy controls and 56 patients with TLE (n = 40 with FBTCS+ and 15 without), isolating those patterns most distinctive of FBTCS+ utilizing tools from dynamic network neuroscience on …


Stress And Seizures: The October 7th Experience, Alon Doron, Firas Fahoum, Lilach Goldstein Jun 2025

Stress And Seizures: The October 7th Experience, Alon Doron, Firas Fahoum, Lilach Goldstein

Department of Neurology Faculty Papers

OBJECTIVE: Stress is a frequently self-reported seizure trigger in patients with epilepsy (PWE), with studies regarding this issue having conflicting results. On October 7th, 2023, a large-scale military invasion accompanied by massive rocket launches against Israel, including Tel Aviv, occurred, providing an opportunity to investigate the role of acute stress in provoking seizures.

METHODS: All adults who presented to the emergency department (ED) of Tel Aviv Sourasky Medical Center between January 1st, 2017, and February 29th, 2024, and were diagnosed with seizures were included. Data were collected using MDClone, a data acquisition tool. The overall seizure-related ED admissions were compared …


Reduced Vns Settings Paradoxically Decreases Seizure Burden In A Patient Following Resolution Of Sleep Disordered Breathing, Austin Sponaugle, Rebecca Stainman, Christopher M. Carosella May 2025

Reduced Vns Settings Paradoxically Decreases Seizure Burden In A Patient Following Resolution Of Sleep Disordered Breathing, Austin Sponaugle, Rebecca Stainman, Christopher M. Carosella

Abington Jefferson Health Papers

Vagus nerve stimulation (VNS) can be a highly effective treatment option for patients with drug resistant epilepsy. Notably, VNS has demonstrated side effects including a unique form of sleep disordered breathing known as vagus nerve stimulator associated sleep disordered breathing (VaS). However, the ways in which VaS interacts with seizure frequency is unknown. We report a case of a 28-year-old woman who presented to our department with complaints of worsening sleep quality 3 years following VNS implantation. Upon polysomnographic (PSG) evaluation, it was discovered that she suffered from VaS. The patient’s VNS output current was then down titrated during a …


Case Report: Todd’S Paralysis In A Patient With An Extensive Stroke History, Thuc Vu, Kishan B. Patel May 2025

Case Report: Todd’S Paralysis In A Patient With An Extensive Stroke History, Thuc Vu, Kishan B. Patel

Rowan-Virtua Research Day

Here we present the case of a 70-year-old patient who presented to the emergency department with altered mental status, left-sided gaze preference, left-sided hemineglect, and inability to follow commands. He had a past medical history of seizure activity and cerebrovascular accident (CVA) with residual dysarthria and was on apixaban. His symptoms began after seizure activity and improved gradually. He was ultimately diagnosed by stroke neurology as having had an episode of Todd’s Paralysis. The differential diagnosis for patients for altered mental status with neurological deficits can be vast, but, in general, Todd’s Paralysis can be an ischemic stroke mimic upon …


Sleep Deprivation Increases Mortality Risk Among Older Adults With Epilepsy, Srikanta Banerjee, Jagdish Khubchandani, Stanley Nkemjika Apr 2025

Sleep Deprivation Increases Mortality Risk Among Older Adults With Epilepsy, Srikanta Banerjee, Jagdish Khubchandani, Stanley Nkemjika

Department of Psychiatry and Human Behavior Faculty Papers

Introduction: Among U.S. adults, over 3 million report a history of epilepsy, accounting for nearly 1.2% of the population. Sleep deprivation is a well-known risk factor for increased likelihood, intensity, and length of seizures. However, the long-term impact of sleep deprivation on people with epilepsy is not well explored. The purpose of this study was to assess mortality risk among individuals with epilepsy based on sleep duration.

Methods: Data from the 2008–2018 National Health Interview Survey (NHIS) were linked with mortality data from the National Death Index (NDI) for US adults aged 65 years and older. Survival curves showed the …


Clinical And Imaging Correlates Of Cognitive Impairment Patterns In Early Unilateral Brain Injury Associated With Sturge-Weber Syndrome, Halah Keramane, Csaba Juhasz Md, Phd, Michael E. Behen Phd, Aimee Luat Md Apr 2025

Clinical And Imaging Correlates Of Cognitive Impairment Patterns In Early Unilateral Brain Injury Associated With Sturge-Weber Syndrome, Halah Keramane, Csaba Juhasz Md, Phd, Michael E. Behen Phd, Aimee Luat Md

Medical Student Research Symposium

Background: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disease characterized by cerebral venous malformations leading to early damage of affected brain regions. Clinical symptoms include seizures, motor and cognitive impairment. Most SWS patients have unilateral brain involvement, and previous studies reveal substantial neurological plasticity in some of them. Some children with left-hemispheric damage demonstrate, paradoxically, preserved verbal functions and reduced nonverbal functions (a “crowding” effect), suggesting contralateral functional reorganization from damaged cortical regions. We evaluated the incidence as well as clinical and imaging correlates of such functional reorganization/crowding.

Methods: Forty-six patients (age: 2.5-24 years) with unilateral SWS underwent neurocognitive evaluations …


Epilepsy In The Hispanic Population In The Rgv: A Five-Year Retrospective Chart Review, Megan W. Szobody, Kelsey Potter-Baker Mar 2025

Epilepsy In The Hispanic Population In The Rgv: A Five-Year Retrospective Chart Review, Megan W. Szobody, Kelsey Potter-Baker

Research Symposium

Introduction: Epilepsy is a seizure disorder characterized by abnormal electrical patterns in the brain that lead to changes in synchronization of neuronal firing patterns. Presentations of seizures vary, and include convulsions, changes in awareness, loss of consciousness, or unusual sensations. Approximately 3.4 million Americans suffer from epilepsy, with close to 15,000 in the Rio Grande Valley (RGV). The RGV is home to a vast Hispanic population, with 91% of its population identifying as Hispanic or Latino, according to the American Immigration Council’s research in 2019. However, literature on the prevalence, and presentation of epilepsy within the Hispanic population …


Endoscopic Transventricular "Inside-Out" Corpus Callosotomy: Illustrative Case, Michael Baumgartner, Elias Atallah, Kathleen Galligan, Pamela Mcdonnell, Benjamin Kennedy Aug 2024

Endoscopic Transventricular "Inside-Out" Corpus Callosotomy: Illustrative Case, Michael Baumgartner, Elias Atallah, Kathleen Galligan, Pamela Mcdonnell, Benjamin Kennedy

Department of Neurosurgery Faculty Papers

BACKGROUND: Tonic and atonic "drop attack" seizures are a classic and morbid semiology in Lennox-Gastaut syndrome, resulting in frequent injuries and emergency room visits, in addition to neurocognitive sequelae. Recent years have seen a growing interest in less invasive techniques for performing the classic surgical treatment for drop attacks in Lennox-Gastaut syndrome, that is, corpus callosotomy.

OBSERVATIONS: A 5-year-old boy with Lennox-Gastaut syndrome presented for surgical evaluation. He experienced up to 20 daily tonic seizures despite multiple antiseizure medications. Preoperative imaging revealed highly abnormal anatomy with severe ventriculomegaly and thinning of the cortex and corpus callosum. Open microsurgery or an …


Multimodal Investigations For The Identification Of Surgically Relevant Brain Areas, Kevin Tyner May 2024

Multimodal Investigations For The Identification Of Surgically Relevant Brain Areas, Kevin Tyner

Theses & Dissertations

Epilepsy is a neurological disease leading to recurrent and unpredictable seizures. Patients can be diagnosed as focal onset, where the seizure focus resides in one hemisphere; generalized onset, where seizure foci reside in both hemispheres; or unknown onset. Anti-seizure medications are the first line of treatment, and those whose seizures cannot be controlled with medication are diagnosed with drug-resistant epilepsy (DRE). For patients diagnosed with focal onset epilepsy to achieve seizure freedom, surgical resection of the epileptogenic zone (EZ), the region of the brain that is both necessary and sufficient for initiating seizures, is required. The EZ is a theoretical …


Edge-Wise Analysis Reveals White Matter Connectivity Associated With Focal To Bilateral Tonic-Clonic Seizures, Sam S. Javidi, Xiaosong He, Ankeeta Ankeeta, Qirui Zhang, Salvatore Citro, Michael R. Sperling, Joseph I. Tracy Mar 2024

Edge-Wise Analysis Reveals White Matter Connectivity Associated With Focal To Bilateral Tonic-Clonic Seizures, Sam S. Javidi, Xiaosong He, Ankeeta Ankeeta, Qirui Zhang, Salvatore Citro, Michael R. Sperling, Joseph I. Tracy

Farber Institute for Neuroscience Faculty Papers

OBJECTIVE: Focal to bilateral tonic-clonic seizures (FBTCS) represent a challenging subtype of focal temporal lobe epilepsy (TLE) in terms of both severity and treatment response. Most studies have focused on regional brain analysis that is agnostic to the distribution of white matter (WM) pathways associated with a node. We implemented a more selective, edge-wise approach that allowed for identification of the individual connections unique to FBTCS.

METHODS: T1-weighted and diffusion-weighted images were obtained from 22 patients with solely focal seizures (FS), 43 FBTCS patients, and 65 age/sex-matched healthy participants (HPs), yielding streamline (STR) connectome matrices. We used diffusion tensor-derived STRs …


Bayesian Non-Homogeneous Hidden Markov Model With Variable Selection For Investigating Drivers Of Seizure Risk Cycling, Emily T Wang, Sharon Chiang, Zulfi Haneef, Vikram R Rao, Robert Moss, Marina Vannucci Mar 2023

Bayesian Non-Homogeneous Hidden Markov Model With Variable Selection For Investigating Drivers Of Seizure Risk Cycling, Emily T Wang, Sharon Chiang, Zulfi Haneef, Vikram R Rao, Robert Moss, Marina Vannucci

Faculty, Staff and Students Publications

A major issue in the clinical management of epilepsy is the unpredictability of seizures. Yet, traditional approaches to seizure forecasting and risk assessment in epilepsy rely heavily on raw seizure frequencies, which are a stochastic measurement of seizure risk. We consider a Bayesian non-homogeneous hidden Markov model for unsupervised clustering of zero-inflated seizure count data. The proposed model allows for a probabilistic estimate of the sequence of seizure risk states at the individual level. It also offers significant improvement over prior approaches by incorporating a variable selection prior for the identification of clinical covariates that drive seizure risk changes and …


Mew Network Self-Management Program Characteristics And Lessons Learned Through The Re-Aim Framework, Cam Escoffery, Archna Patel, Jerik Leung, Molly Anderson, Robin Mcgee, Martha Sajatovic, Erica K Johnson, Barbara Jobst, Elaine T Kiriakopoulos, Ross Shegog, Robert Fraser, Rakale C Quarells Mar 2023

Mew Network Self-Management Program Characteristics And Lessons Learned Through The Re-Aim Framework, Cam Escoffery, Archna Patel, Jerik Leung, Molly Anderson, Robin Mcgee, Martha Sajatovic, Erica K Johnson, Barbara Jobst, Elaine T Kiriakopoulos, Ross Shegog, Robert Fraser, Rakale C Quarells

Faculty, Staff and Student Publications

RATIONALE: The promotion of evidence-based self-management support for people living with chronic conditions such as epilepsy is a public health priority. Epilepsy self-management encompasses three general areas: (1) treatment management, (2) seizure management, and (3) lifestyle management. Interventions focusing on self-management have increased quality of life and adherence to treatment. This study assesses and synthesizes the Managing Epilepsy Well Network (MEWN) program implementation experiences using the RE-AIM framework. This research informs the quality and rigor of MEWN program dissemination and implementation efforts to assess whether these programs are being implemented and their scalability.

METHODS: The study data were derived from …


Accelerated Forgetting In People With Epilepsy: Pathologic Memory Loss, Its Neural Basis, And Potential Therapies, Sarah Ashley Steimel Phd Jan 2023

Accelerated Forgetting In People With Epilepsy: Pathologic Memory Loss, Its Neural Basis, And Potential Therapies, Sarah Ashley Steimel Phd

Dartmouth College Ph.D Dissertations

While forgetting is vital to human functioning, delineating between normative and disordered forgetting can become incredibly complex. This thesis characterizes a pathologic form of forgetting in epilepsy, identifies a neural basis, and investigates the potential of stimulation as a therapeutic tool. Chapter 2 presents a behavioral characterization of the time course of Accelerated Long-Term Forgetting (ALF) in people with epilepsy (PWE). This chapter shows evidence of ALF on a shorter time scale than previous studies, with a differential impact on recall and recognition. Chapter 3 builds upon the work in Chapter 2 by extending ALF time points and investigating the …


Considerations In The Management Of Juvenile Absence Epilepsy In Pregnancy And In Females Of Childbearing Age, Casey Brew Jan 2023

Considerations In The Management Of Juvenile Absence Epilepsy In Pregnancy And In Females Of Childbearing Age, Casey Brew

Capstone Showcase

JAE is an epilepsy syndrome that typically requires lifelong AED treatment, and valproic acid or lamotrigine is considered first line to manage the spectrum of associated seizures. In females with JAE who become pregnant, there exist risks both from having uncontrolled seizures and from taking AEDs during the pregnancy. Valproic acid carries the highest risks to the fetus but is the most effective in controlling the seizure types seen with JAE. Folic acid supplementation has shown to mitigate some but not all of the fetal risks from valproic acid. Limited guidance from professional organizations exists for management of females of …


Brain Glycogen – Beyond Energy Storage In Glycogen Storage Diseases, Kia H. Markussen Jan 2023

Brain Glycogen – Beyond Energy Storage In Glycogen Storage Diseases, Kia H. Markussen

Theses and Dissertations--Molecular and Cellular Biochemistry

Glycogen is a carbohydrate molecule that is traditionally viewed as a convenient and easily accessible energy storage form of glucose. However,emerging evidence supports the role of glycogen as more than a glucose storage form. During the last 20 years, glycogen has been shown to play pivotal roles in learning and memory, signaling events, viscosity, protein glycosylation, and be acritical hallmark in devastating diseases. Not only, does glycogen play a role as an energy substrate and critical metabolite during energy deprivation, glycogen is central for neurotransmitter homeostasis, tumor initiation, and ontributes to proper protein glycosylation in the brain. In this work, …


Characterizing The Roles Of Cannabinoid Receptor 1 & 2 In Zebrafish Behavior, Metabolism, And Seizure-Induced Activity, Kayci Kimmons May 2022

Characterizing The Roles Of Cannabinoid Receptor 1 & 2 In Zebrafish Behavior, Metabolism, And Seizure-Induced Activity, Kayci Kimmons

Honors Theses

Epileptic disorders like Dravet Syndrome require novel studies to determine the most ideal treatment. New research linking the endocannabinoid system (ECS) to epileptic disorders is arising, but there is still much to be discovered about the function and regulatory impact of the endocannabinoid system and its receptors in epilepsies like Dravet. In this study, knockout models of larval and adult zebrafish (Danio rerio) were used to investigate the roles of cannabinoid receptors 1 & 2 in behavior, brain mitochondrial metabolism, and seizure-induced activity following exposure to THC and CBD. Larval zebrafish which lacked cannabinoid receptor 1 exhibited increased …


Proceedings Of The 10th Annual Deep Brain Stimulation Think Tank: Advances In Cutting Edge Technologies, Artificial Intelligence, Neuromodulation, Neuroethics, Interventional Psychiatry, And Women In Neuromodulation, Joshua K Wong, Helen S Mayberg, Doris D Wang, R Mark Richardson, Casey H Halpern, Lothar Krinke, Mattia Arlotti, Lorenzo Rossi, Alberto Priori, Sara Marceglia, Ro'ee Gilron, James F Cavanagh, Jack W Judy, Svjetlana Miocinovic, Annaelle D Devergnas, Roy V Sillitoe, Stephanie Cernera, Carina R Oehrn, Aysegul Gunduz, Wayne K Goodman, Erika A Petersen, Helen Bronte-Stewart, Robert S Raike, Mahsa Malekmohammadi, David Greene, Petra Heiden, Huiling Tan, Jens Volkmann, Valerie Voon, Luming Li, Pankaj Sah, Terry Coyne, Peter A Silburn, Cynthia S Kubu, Anna Wexler, Jennifer Chandler, Nicole R Provenza, Sarah R Heilbronner, Marta San Luciano, Christopher J Rozell, Michael D Fox, Coralie De Hemptinne, Jaimie M Henderson, Sameer A Sheth, Michael S Okun Jan 2022

Proceedings Of The 10th Annual Deep Brain Stimulation Think Tank: Advances In Cutting Edge Technologies, Artificial Intelligence, Neuromodulation, Neuroethics, Interventional Psychiatry, And Women In Neuromodulation, Joshua K Wong, Helen S Mayberg, Doris D Wang, R Mark Richardson, Casey H Halpern, Lothar Krinke, Mattia Arlotti, Lorenzo Rossi, Alberto Priori, Sara Marceglia, Ro'ee Gilron, James F Cavanagh, Jack W Judy, Svjetlana Miocinovic, Annaelle D Devergnas, Roy V Sillitoe, Stephanie Cernera, Carina R Oehrn, Aysegul Gunduz, Wayne K Goodman, Erika A Petersen, Helen Bronte-Stewart, Robert S Raike, Mahsa Malekmohammadi, David Greene, Petra Heiden, Huiling Tan, Jens Volkmann, Valerie Voon, Luming Li, Pankaj Sah, Terry Coyne, Peter A Silburn, Cynthia S Kubu, Anna Wexler, Jennifer Chandler, Nicole R Provenza, Sarah R Heilbronner, Marta San Luciano, Christopher J Rozell, Michael D Fox, Coralie De Hemptinne, Jaimie M Henderson, Sameer A Sheth, Michael S Okun

Faculty, Staff and Students Publications

The deep brain stimulation (DBS) Think Tank X was held on August 17–19, 2022 in Orlando FL. The session organizers and moderators were all women with the theme women in neuromodulation. Dr. Helen Mayberg from Mt. Sinai, NY was the keynote speaker. She discussed milestones and her experiences in developing depression DBS. The DBS Think Tank was founded in 2012 and provides an open platform where clinicians, engineers and researchers (from industry and academia) can freely discuss current and emerging DBS technologies as well as the logistical and ethical issues facing the field. The consensus among the DBS Think …


A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson Jan 2021

A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson

Department of Paediatrics and Child Health

Purpose: Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific peptidase 2 (UFSP2), which participates in the UFMylation pathway of protein modification. UFSP2 variants are implicated in autosomal dominant skeletal dysplasias, but not neurodevelopmental disorders. Homozygosity for the variant occurred in eight children from four South Asian families with neurodevelopmental delay and epilepsy. We describe the clinical consequences of this variant and its effect on UFMylation.
Methods: Exome sequencing was used to detect potentially pathogenic variants and identify shared regions of homozygosity. Immunoblotting assessed protein expression and post-translational modifications in patient-derived fibroblasts. …


Kcnq2 Localization In The Brainstem, Christina Valera May 2020

Kcnq2 Localization In The Brainstem, Christina Valera

Honors Scholar Theses

KCNQ2 channels are potassium channels that serve to control neuronal excitability. Loss of function mutations in these channels are known to cause various forms of epilepsy. Recently, KCNQ2 R201C and R201H gain of function mutations have been shown to exhibit an exaggerated startle response and other unique phenotypes uncharacteristic of epilepsy. These phenotypes resemble hyperekplexia, a condition in which glycine neurotransmission in the spinal cord and brainstem is affected. While KCNQ2 has widespread localization throughout the brain, its presence in the brainstem remains unknown. We used immunostaining to determine the localization of KCNQ2 in the vagus nerve and hypoglossal nerve …


Vile Blood: Hereditary Degeneracy In Victorian England, Dalton Lee Brock May 2019

Vile Blood: Hereditary Degeneracy In Victorian England, Dalton Lee Brock

Theses and Dissertations from 2019

During the late 1800s, the people of England grew anxious about hereditary degeneracy. That anxiety was rooted in the medical literature of the Victorian period. Nature predetermined individuals to be either healthy or unhealthy. Unhealthy individuals were marked by degenerative mental or physical characteristics such as epilepsy. Medical professionals, including Henry Maudsley, emphasized reversion and its hereditary nature as a threat to individuals and society. All based their works and arguments on Charles Darwin’s idea of inheritance. Darwin, in turn, had adopted and modified Lamarckian inheritance to make up for the absence of an inheritance principle in his theory of …


Regeneration Of Neurotransmission Transcriptome In A Model Of Epileptic Encephalopathy After Antiinflammatory Treatment, Dumitru Iacobas, Libor Velisek Oct 2018

Regeneration Of Neurotransmission Transcriptome In A Model Of Epileptic Encephalopathy After Antiinflammatory Treatment, Dumitru Iacobas, Libor Velisek

NYMC Faculty Publications

Inflammation is an established etiopathogenesis factor of infantile spasms (IS), a therapy-resistant epileptic syndrome of infancy. We investigated the IS-associated transcriptomic alterations of neurotransmission in rat hypothalamic arcuate nucleus, how they are corrected by antiinflamatory treatments and whether there are sex differences. IS was triggered by repeated intraperitoneal administration of N-methyl-D-aspartic acid following anti-inflammatory treatment (adreno-cortico-tropic-hormone (ACTH) or PMX53) or normal saline vehicle to prenatally exposed to betamethasone young rats. We found that treatments with both ACTH and PMX53 resulted in substantial recovery of the genomic fabrics of all types of synaptic transmission altered by IS. While ACTH represents the …


Identifying Kif Subtype That Mediates Axonal Targeting Of Kv7 Channels, Allison Houghton, Jennifer Walters, Mary Hong, Dhruv Joshi, Hee Jung Chung Jul 2018

Identifying Kif Subtype That Mediates Axonal Targeting Of Kv7 Channels, Allison Houghton, Jennifer Walters, Mary Hong, Dhruv Joshi, Hee Jung Chung

PRECS 2018

Early-onset Benign Familial Neonatal Epilepsy (BFNE) and Epileptic Encephalopathy (EE), are associated with mutations in neuronal KCNQ/Kv7 channel subunits Kv7.2 and Kv7.3. Kv7 channels are voltage-dependent potassium channels. Enriched at the axonal plasma membrane, they pump potassium ions out of the neurons and inhibit repetitive or burst firing of action potentials. A single neuronal Kv7 channel is a heterotetramer composed of two Kv7.2 and two Kv7.3 subunits. BFNE and EE mutations in Kv7.2 and Kv7.3 lead to decreased surface expression along the axon, which means less potassium ions are moved across the axonal membrane where action potentials are generated and …


The Influence Of Solid Microneedles On The Transdermal Delivery Of Selected Antiepileptic Drugs, Julia Nguyen, Kevin B. Ita, Matthew J. Morra, Inna E. Popova Jan 2016

The Influence Of Solid Microneedles On The Transdermal Delivery Of Selected Antiepileptic Drugs, Julia Nguyen, Kevin B. Ita, Matthew J. Morra, Inna E. Popova

Faculty Publications & Research of the TUC College of Pharmacy

The aim of this project was to examine the effect of microneedle rollers on the percutaneous penetration of tiagabine hydrochloride and carbamazepine across porcine skin in vitro. Liquid chromatography-mass spectrometric analysis was carried out using an Agilent 1200 Series HPLC system coupled to an Agilent G1969A TOF-MS system. Transdermal flux values of the drugs were determined from the steady-state portion of the cumulative amount versus time curves. Following twelve hours of microneedle roller application, there was a 6.74-fold increase in the percutaneous penetration of tiagabine hydrochloride (86.42 ± 25.66 µg/cm2/h) compared to passive delivery (12.83 ± 6.30 µg/cm …


Does Temporal Lobe Resection Cure Seizures In Epileptics?, Alyssa Hall Jan 2016

Does Temporal Lobe Resection Cure Seizures In Epileptics?, Alyssa Hall

PCOM Physician Assistant Studies Student Scholarship

Objective: The objective of this systematic review is to determine whether or not temporal lobe resection cures seizures in epileptics.

Study Design: Systematic review of three English language, peer-reviewed randomized controlled trials, published between 2001 and 2012

Data Sources: Two randomized controlled trials comparing temporal lobe resection surgery to antiepileptic drugs in the treatment of epileptic seizures, and one randomized controlled trial comparing 3.5 cm temporal lobe resection to 2.5 cm temporal lobe resection in the treatment of epileptic seizures. Studies were obtained by the author through the PubMed database.

Outcomes Measured: Primary outcome measured by the three studies was …


Ketogenic Diet Decreases Emergency Room Visits And Hospitalizations Related To Epilepsy., Husam R. Kayyali, Anastasia Luniova, Ahmed Abdelmoity Jan 2016

Ketogenic Diet Decreases Emergency Room Visits And Hospitalizations Related To Epilepsy., Husam R. Kayyali, Anastasia Luniova, Ahmed Abdelmoity

Manuscripts, Articles, Book Chapters and Other Papers

Background. Approximately, one-third of patients with epilepsy are refractory to pharmacological treatment which mandates extensive medical care and imposes significant economic burden on patients and their societies. This study intends to assess the impact of the treatment with ketogenic diet (KD) on reducing seizure-related emergency room visits and hospitalizations in children with refractory epilepsy. Methods. This is a retrospective review of children treated with the KD in one tertiary center. We compared a 12 months' period prior to KD with 12 months after the diet was started in regard to the number of emergency department (ED) visits, hospitalizations, …