Neurology Commons^™

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.

American Epilepsy Society Clinical Practice Guideline: Infantile Epilepsy., Daniel Freedman, Ifeoluwa Babatunde, Rebecca L. Morgan, Renad Abu-Sawwa, Dara Albert, Mandana Behbahani, Kevin Chapman, Erin Day Fecske, William Davis Gaillard, Monika Jones, Mary Anne Meskis, Leah Schust Myers, Kim Nye, Chima Oluigbo, Heidi H. Pfeifer, Reneé A. Shellhaas, Lindsey Thompson, Howard L. Weiner, Courtney J. Wusthoff, Elissa Yozawitz

Manuscripts, Articles, Book Chapters and Other Papers

This practice guideline from the American Epilepsy Society provides evidence-based recommendations for pharmacological, dietary, and surgical therapies for epilepsy for infants and children from 1 month of age to < 36 months. The multidisciplinary panel updated an existing systematic review, which was funded by the Patient-Centered Outcomes Research Institute and conducted by ECRI (formerly the Emergency Care Research Institute) on behalf of the Agency for Healthcare Research and Quality. The updated review used the same search strategy, inclusion/exclusion criteria, and Grading of Recommendations Assessment, Development and Education methodology, and added studies from August 2021 through September 2025 that were not in the original systematic review. As with the previous review, West syndrome and infantile spasms were excluded from this guideline, as existing treatment guidance is already available for infantile epileptic spasms. While many of the recommendations are conditional due to low certainty of evidence, the panel made two strong recommendations: (1) hemispherectomy/hemispherotomy surgery is recommended for infants and children < 36 months of age with drug resistant epilepsy secondary to select underlying lesional pathologies, including but not limited to hemimegaloencephaly, Rasmussen's encephalitis, Sturge-Weber syndrome, perinatal stroke, and hemispheric cortical dysplasia; and (2) intralobar, multilobar, or focal resections or posterior disconnections for drug-resistant focal or lesional epilepsy in this same age range. A treatment algorithm was developed based on evidence and expert opinion as part of the guideline to help place pharmacological, dietary, and surgical recommendations in a clinical context. The limited number of studies and low certainty of evidence in this population underscores the need for higher-quality data and etiology-specific treatments. More research is needed to evaluate effective therapies for infants with epilepsy, as well as the impact these therapies have on long-term developmental and mortality outcomes.

Thalamic Organization Differentially Contributes To Clinical Conditions In Epilepsy, Qirui Zhang, Sam S. Javidi, Ankeeta Ankeeta, Michael R. Sperling, Zhiqiang Zhang, Joseph I. Tracy

Farber Institute for Neuroscience Faculty Papers

BACKGROUND: The thalamus plays an important role in key clinical conditions of focal temporal lobe epilepsy (TLE), but no investigation has examined whether the same thalamic local and connectome properties shape a patient's status across these different conditions.

METHODS: This retrospective longitudinal MRI study used resting-state fMRI and structural imaging to identify whole-brain focal/regional and connectome-level features associated with six binary clinical conditions of TLE (pre/post-surgery, seizure and neurocognitive outcomes, pathology, seizure subtype, and SOZ lateralization) in 91 patients across two centers (age range: 15-65 years) and 85 matched healthy participants (age range: 18-60 years).

RESULTS: Across conditions, relative to …

Non-Synaptic Function And Localization Of Syntaxin-Binding Protein 1 In A Mouse Model Of Stxbp1-Related Epileptic Encephalopathy, Tao Yang, Rajat Banerjee, Yamei Deng, Sheetal Jahagirdar, Joo Hyun Kim, Wu Chen, Mingshan Xue, Alexey I Nesvizhskii, Michael D Uhler, Jack M Parent, Yu Wang

Duncan NRI Faculty and Staff Publications

Objective: De novo mutations in the syntaxin-binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders. Although STXBP1 has been proposed as a critical presynaptic protein controlling synaptic vesicle exocytosis, clinical phenotypes also suggest that its biological function could be more diverse.

Methods: The expression pattern of STXBP1 was studied using immunostaining in vitro and in vivo. Synaptosome isolation was performed to investigate the synaptic and non-synaptic localization of STXBP1 in the brain. STXBP1 immunoprecipitation followed by mass spectrometry (MS) was conducted to identify protein …

Epilepsy, Children's Health School Services

School Guides

Educator guide about how to support students with epilepsy.

Dose Adjustment Of The Anti-Seizure Medications Levetiracetam And Lamotrigine During The Postpartum Period. Schedule Plan, Safety And Efficacy, Nadejda Khmelev, Firas Fahoum, Lilach Goldstein

Department of Neurology Faculty Papers

INTRODUCTION: Lamotrigine (LTG) and Levetiracetam (LEV) are anti-seizure medications (ASMs) widely used for treatment of women with epilepsy (WWE) of childbearing age due to low teratogenic potential. Physiological changes during gestation results in enhanced clearance. Drug level monitoring and frequent dose adjustments are required to avoid decline in serum levels and compromised seizure control. Postpartum, physiological changes reverse and ASM clearance trends back to pre-pregnancy rate. Rapid metabolic changes make drug level monitoring and dose adjustments challenging. A delay in dose decrement could result in toxicity. The optimal postpartum dose reduction rate hasn't been established.

METHODS: We retrospectively examined medical …

New Onset Of Comorbidities In People With Epilepsy In A National Healthcare Claims Database., Edward Faught, Emily Klatte, Clarence T Wade, Sean Stern, Wesley T Kerr

Neuroscience Articles

PURPOSE: This study evaluated the rate of new occurrence of select comorbidities in adults after events of uncontrolled epilepsy versus controlled epilepsy.

METHODS: The HealthVerity Marketplace Inovalon healthcare claims database was used. Adults (≥18 years) with an epilepsy diagnosis (ICD-10-CM G40*) prescribed at least one antiseizure medication (ASM) between January 1, 2015, and December 31, 2021, were included. Patients were categorized as having either a first-filled or third-filled ASM. The first ASM filled was defined as no ASMs filled for at least 1 year of enrollment. Uncontrolled epilepsy events within 1 year of new ASM initiation were: seizure-related inpatient or …

Potential For Therapeutic Alteration Of The Underlying Biology Of Epilepsy, Michael R. Sperling, Jurriaan M. Peters, Qian Wu, Michelle Guignet, H. Steve White, Evelyn K. Shih, Leock Y. Ngo, Enrique Carrazana, Adrian L. Rabinowicz

Department of Neurology Faculty Papers

Approximately 30-35% of people with epilepsy experience seizures despite taking antiseizure medications. Recurrent seizures that are independent of status epilepticus can be associated with neuronal injury and structural changes to the brain, as well as diminished cognitive function, mood, and quality of life. A treatment that alters the underlying biology of epilepsy, thereby reducing the seizure burden and its attendant consequences, would be of great value in preventing these detrimental effects. In this review, we summarize preclinical and clinical research on pharmacological treatments that may favorably alter the underlying biology of epilepsy (i.e., disease modification or antiepileptogenesis). A reduction in …

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 …

Kenyan Dietitians’ Knowledge Of Ketogenic Dietary Therapies For Drug-Resistant Epilepsy, Pauline Samia, Violet Naanyu, Perry Ndila, Helen Cross, Richard Idro, Paul Boon, Jo Wilmshurst, Stanley Luchters

Paediatrics and Child Health, East Africa

Background: Ketogenic dietary therapy (KDT) has been proven to be efficacious for people with drug-resistant epilepsy. However, it is rarely utilized in low-resource settings. Due to the complexity of implementation, dietitians play a crucial role in managing KDT.

Methods: We conducted a cross-sectional survey of 253 out of the 1,000 registered dietitians. We assessed their knowledge of and interest in further training in KDT.

Results: Most participants were female (78%), with a median age of 33 years (IQR=28–38). A total of 171 (67.6%) reported knowledge of KDT. However, only 13 respondents (7.6%) answered all five knowledge-specific questions correctly. A …

Rest-Activity Rhythm Phenotypes In Adults With Epilepsy And Intellectual Disability, Nandani Adhyapak, Grace E Cardenas, Mark A Abboud, Vaishnav Krishnan

Faculty, Staff and Students Publications

Objective: Rest-activity rhythms (RARs) are perturbed in many forms of neuropsychiatric illness. In this study, we applied wrist actigraphy to describe RAR perturbations in intellectually disabled adults with epilepsy ("E + ID"), using a cross-sectional case-control design. We examined whether RAR phenotypes correlated with epilepsy severity, deficits in adaptive function, and/or comorbid psychopathology.

Methods: Caregivers of E + ID subjects provided informed consent during routine ambulatory clinic visits and were asked to complete standardized surveys of overall epilepsy severity (GASE, Global Assessment of Severity of Epilepsy), adaptive function (ABAS-3, Adaptive Behavior Assessment System-3) and psychopathology (ABCL, Adult Behavior Checklist). Caregivers …

Sleep Drive, Not Total Sleep Amount, Increases Seizure Risk, Vishnu Anand Cuddapah, Cynthia T Hsu, Fernanda Valle Sirias, Yongjun Li, Hrishit M Shah, Christopher Saul, Samantha Killiany, Camilo Guevara, Joy Shon, Zhifeng Yue, Gabrielle L Gionet, Mary E Putt, Amita Sehgal

Duncan NRI Faculty and Staff Publications

Sleep loss has been associated with increased seizure risk since antiquity. Using automated video detection of spontaneous seizures in Drosophila epilepsy models, we show that seizures worsen only when sleep restriction raises homeostatic "sleep drive," not simply when total sleep amount falls. This is supported by the paradoxical finding that acute activation of sleep-promoting circuits worsens seizures, because it increases sleep drive without changing sleep amount. Sleep-promoting circuits become hyperactive after sleep loss and are associated with increased whole-brain activity. During sleep restriction, optogenetic inhibition of sleep-promoting circuits to reduce sleep drive protects against seizures. Downregulation of the 5HT1A serotonin …

Individualized Functional And Structural Language Lateralities In Temporal Lobe Epilepsy And Their Impact On Memory, Ankeeta Ankeeta, Qirui Zhang, Sam Sharifzadeh Javidi, Shilpi Modi, Michael R. Sperling, Joseph I. Tracy

Department of Neurology Faculty Papers

The basis and impact of functional asymmetries in the brain, particularly language lateralization, are not fully understood, and the relationship between functional and structural asymmetries remains largely untested. This study investigated the degree to which asymmetries in hemispheric language laterality are concordant with asymmetries in gray matter (GM) structure and whether the hemispheric organization of memory is influenced by functional language asymmetries. Structural and functional MR data was acquired from 261 individuals, including those with unilateral temporal lobe epilepsy (LTLE = 96, RTLE = 69) and matched with healthy participants (HPs = 96). Functional language laterality indices (LIs) were calculated …

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

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 …

Impact Of Length Of Stay On Diagnostic Yield In The Epilepsy Monitoring Unit: A Multi-Center Retrospective 12-Year Veterans Health Administration Study, Maximillian S Feygin, Autumn Smith, Sruthi Gopinath Karicheri, Khadar Haroun, Omar Khan, Maria R Lopez, Stephan Eisenschenk, John Jones, Stephanie Reeder, Alan R Towne, Christopher Ransom, Karen Medin, James Chen, Tung Tran, Nina I Garga, Noemi Rincon-Flores, Marissa Kellogg, Steven Tobochnik, Zulfi Haneef

Faculty, Staff and Students Publications

Objective: Epilepsy Monitoring Units (EMUs) in Veterans Health Administration (VHA) Epilepsy Centers of Excellence (ECoE) are critical for the diagnosis and management of seizure disorders. Whether a shorter length of stay (LOS) in the EMU due to scheduling impacts diagnostic yield is unclear.

Methods: Data from 7074 EMU visits across 15 VHA EMUs (2012-2024) were analyzed. Based on usual admission schedules, EMUs were divided into "fixed" (typically Monday-Friday) or "flexible" subgroups. Diagnostic outcomes were classified as epileptic seizures (ES), psychogenic non-epileptic seizures (PNES), other non-epileptic events, and inconclusive. Diagnostic rates were compared between fixed and flexible sites using cumulative distribution …

Facilitators And Barriers To Neurologist Referral Of Patients For Epilepsy Surgery Evaluation., Chloé E Hill, Daniel Hochster, Jessica E Baker, Alison L Herman, Nishad Shaheid, Susanna S O'Kula, Jack M Parent, Darin B Zahuranec, Lesli E Skolarus

Neuroscience Articles

OBJECTIVE: Epilepsy surgery offers a potential cure for drug-resistant epilepsy (DRE), yet surgery is underutilized. An estimated 5% of patients with DRE undergo long-term EEG monitoring (LTM) annually, the requisite first step of evaluation for surgical candidacy. Much of the variation in LTM referral may be attributable to individual neurologist practice rather than patient characteristics. We explored neurologist behaviors and practices in epilepsy surgery referral to guide future interventions to expand patient access to surgery.

METHODS: This qualitative interview study recruited neurologists who treated adults with epilepsy. Interviews were grounded in the Theoretical Domains Framework (TDF) of behavior change to …

Self-Management For People With Epilepsy And A History Of Negative Health Events (Smart): A Randomized Controlled Effectiveness Trial, Martha Sajatovic, Jessica Black, Jacqueline Krehel-Montgomery, Richard Barigye, Joy Yala, Clara Adeniyi

Faculty Scholarship

Objectives: This 2-site, 6-month randomized controlled trial of an epilepsy self-management (ESM) curriculum (SMART) vs. 6-month waitlist (WL) control assessed effects on epilepsy outcomes in 160 people with epilepsy (PWE). Methods: PWE had at least 1 negative health event (NHE) defined as a seizure, emergency department visit, hospitalization or self-harm attempt in the last 6 months. Primary outcomes were differences in proportions of PWE with reductions in NHEs from baseline to 6 months follow up and change in NHE/seizure counts between SMART and WL. Secondary outcomes included the Patient Health Questionnaire (PHQ-9), 36-Item Short Form Survey (SF-36), Quality of Life …

Development And Feasibility Testing Of An Implementation Evaluation Tool: Recommendations From The Managing Epilepsy Well (Mew) Network Research Collaborative, Martha Sajatovic, Clara Adeniyi, Jessie Black

Faculty Scholarship

Aims: The Managing Epilepsy Well (MEW) Network has led the development, testing and scale-up of epilepsy self-management (ESM). The MEW Integrated Database (MEW DB) is a pooled repository of archival studies that facilitates aggregate analysis. This report describes an implementation evaluation tool for ESM adopters. Methods: Publicly available materials on program implementation, adoption and sustainability as well as readiness surveys used by the MEW Network were reviewed, as were content domains and format styles relevant to ESM implementation. Requirements for data Tiers included: 1) survey Tier should be short (≤6 items) and completed quickly (< 3 min), 2) question and response format should be consistent, 3) data elements are relevant to ESM adopters and 4) the tool should be applicable across ESM programs. Iterative review, discussion and item-ranking yielded a final set of 3 distinct data element Tiers. Results: Implementation data elements assess the characteristics of organization that may be a potential ESM adopter (Tier 1), organizational readiness to ESM implementation (Tier 2) and perceptions of ESM program effects or impact by adopters at the individual and program levels (Tier 3). There are 18 data elements, 6 elements in each Tier. Organizational characteristics reflect health disparities among people with epilepsy and common comorbidities. Implementation readiness barriers include motivational factors, training and resources. Implementation experience/outcomes include perceived ESM duration, credibility, impact, likability and effectiveness. Conclusions: A brief and practical implementation evaluation tool for ESM has potential value and important clinical and policy implications in advancing care for people with epilepsy.

Socio-Medical Factors Associated With Neurodevelopmental Disorders On The Kenyan Coast, Patricia Kipkemoi, Jeanne E. Savage, Joseph Gona, Kenneth Rimba, Martha Kombe, Paul Mwangi, Collins Kipkoech, Beatrice Mkubwa, Amina Abubakar, Charles Newton

Institute for Human Development, East Africa

Neurodevelopmental disorders (NDDs) are a group of conditions with their onset during the early developmental period and include conditions such as autism and intellectual disability. Occurrence of NDDs is thought to be determined by both genetic and environmental factors, but data on the role of environmental factors for NDD in Africa is limited. This study investigates environmental influences on NDDs in children from Kenya. This case-control study compared children with NDDs and typically developing children from two studies on the Kenyan coast. We included 172 study participants from the Kilifi Autism study and 151 from the NeuroDev study who had …

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 …

Epilepsy Diagnosis When The Routine Ancillary Tests Are Normal, Boulenouar Mesraoua, Bassel Abou-Khalil, Bernhard Schuknecht, Hassan Al Hail, Musab Ali, Majd A. Abualrob, Khaled Zammar, Ali A. Asadi-Pooya

Department of Neurology Faculty Papers

Background/Objectives: In a patient suspected of having epilepsy, routine EEG primarily contributes to the recording of interictal epileptiform discharges (IEDs). Similarly, magnetic resonance imaging (MRI) has become the gold standard imaging technique for identifying epileptogenic structural brain abnormalities. Various EEG and MRI tools to improve epilepsy diagnosis will be presented. Methods: When the initial EEG fails to record IEDs, various EEG measures that can improve EEG performance are presented; a comprehensive epilepsy-targeted MRI protocol to identify, localize, and characterize an epileptogenic lesion will also be described. Results: Studies show that the initial routine EEG fails to record IEDs in approximately …

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 …

Leveraging Pretrained Language Models For Seizure Frequency Extraction From Epilepsy Evaluation Reports, Rashmie Abeysinghe, Shiqiang Tao, Samden D Lhatoo, Guo-Qiang Zhang, Licong Cui

Faculty, Staff and Student Publications

Seizure frequency is essential for evaluating epilepsy treatment, ensuring patient safety, and reducing risk for Sudden Unexpected Death in Epilepsy. As this information is often described in clinical narratives, this study presents an approach to extracting structured seizure frequency details from such unstructured text. We investigated two tasks: (1) extracting phrases describing seizure frequency, and (2) extracting seizure frequency attributes. For both tasks, we fine-tuned three BERT-based models (bert-large-cased, biobert-large-cased, and Bio_ClinicalBERT), as well as three generative large language models (GPT-4, GPT-3.5 Turbo, and Llama-2-70b-hf). The final structured output integrated the results from both tasks. GPT-4 attained the best performance …

An Open-Label Study Evaluating The Safety And Efficacy Of Amo-01 For The Treatment Of Seizures In Phelan-Mcdermid Syndrome, Tess Levy, J Lloyd Holder, Joseph P Horrigan, Michael F Snape, Alison Mcmorn, Christina Layton, Hailey Silver, Kate Friedman, Hannah Grosman, Slayton Underwood, Danielle Halpern, Jessica Zweifach, Paige M Siper, Alexander Kolevzon

Duncan NRI Faculty and Staff Publications

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene. Approximately 25% of individuals with PMS have epilepsy. Treatment of epilepsy in PMS may require multiple anticonvulsants, and in a minority of cases, seizures remain poorly controlled. Converging lines of evidence in different experimental models indicate that the Ras-ERK pathway is implicated in the pathophysiology of seizure generation and neurobehavioral symptoms in PMS. The goal of this study was to evaluate the safety, tolerability, and efficacy in treating seizures in adults and adolescents with PMS using AMO-01, a Ras-ERK pathway inhibitor. A single 6-hour intravenous infusion …

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 …

De Novo Variants In Cdkl1 And Cdkl2 Are Associated With Neurodevelopmental Symptoms, Ali H Bereshneh, Jonathan C Andrews, Daniel F Eberl, Guney Bademci, Nicholas A Borja, Stephanie Bivona, Wendy K Chung, Shinya Yamamoto, Michael F Wangler, Shane Mckee, Mustafa Tekin, Hugo J Bellen, Oguz Kanca

Duncan NRI Faculty and Staff Publications

The CDKL (cyclin-dependent kinase-like) family consists of five members in humans, CDKL1-5, that encode serine-threonine kinases. The only member that has been associated with a Mendelian disorder is CDKL5, and variants in CDKL5 cause developmental and epileptic encephalopathy type 2 (DEE2). Here, we study four de novo variants in CDKL2 identified in five individuals, including three unrelated probands and monozygotic twins. These individuals present with overlapping symptoms, including global developmental delay, intellectual disability, childhood-onset epilepsy, dyspraxia, and speech deficits. We also identified two individuals with de novo missense variants in CDKL1 in the published Deciphering Developmental Disorders (DDD) and GeneDx …

Youtube User Traffic To Paired Epilepsy Education Videos In English And Spanish: Comparative Study., Luna Kimahri Varela, Stephanie Horton, Ahmed Abdelmoity, Jean-Baptist Lepichon, Mark A. Hoffman

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Effectively managing epilepsy in children necessitates the active engagement of parents, a factor that is reliant on their understanding of this neurological disorder. Widely available, high-quality, patient-focused, bilingual videos describing topics important for managing epilepsy are limited. YouTube Analytics is a helpful resource for gaining insights into how users of differing backgrounds consume video content.

OBJECTIVE: This study analyzes traffic to paired educational videos of English and Spanish versions of the same content. By examining the use patterns and preferences of individuals seeking information in different languages, we gained valuable insights into how language influences the use of clinical …

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 …

Genome-Wide Prediction Of Dominant And Recessive Neurodevelopmental Disorder-Associated Genes, Ryan S Dhindsa, Blake A Weido, Justin S Dhindsa, Arya J Shetty, Chloe F Sands, Slavé Petrovski, Dimitrios Vitsios, Anthony W Zoghbi

Duncan NRI Faculty and Staff Publications

Despite great progress, thousands of neurodevelopmental disorder (NDD) risk genes remain to be discovered. We present a computational approach that accelerates NDD risk gene identification using machine learning. First, we demonstrate that models trained solely on single-cell RNA sequencing data can robustly predict genes implicated in autism spectrum disorder (ASD), developmental and epileptic encephalopathy (DEE), and developmental delay (DD). Notably, we find differences in gene expression patterns of genes with monoallelic and bi-allelic inheritance patterns in the developing human cortex. We then integrate expression data with 300 orthogonal features, including intolerance metrics, protein-protein interaction data, and others, in a semi-supervised …