CHOC made a strong showing at the annual meeting of the American Epilepsy Society (AES), a diverse group of healthcare providers, scientists, advocates, industry leaders, and other professionals committed to improving outcomes for people with epilepsy.
More than 20 CHOC attendees — including epileptologists, neurologists, and neurosurgeons, as well as research and program coordinators, and nurse practitioners from neurodiagnostics and neuropsychology — attended the four-day conference that included educational sessions featuring the latest advancements in epilepsy science, treatments, tools, and technologies.
“AES is a remarkable conference that brings together professionals from around the world to learn, network, and share knowledge,” says Angelyque Lorenzana, epilepsy clinical research coordinator supervisor at CHOC who attended a leadership class, an investigator workshop presentation, and other meetings at the AES gathering.
“As a CHOC team member, I was especially proud to highlight the incredible work of my colleagues through abstracts and investigator workshops,” adds Angelyque, also a member of the board of directors of the Pediatric Epilepsy Research Consortium. “This experience not only enhanced my professional growth but also deepened my motivation to continue advancing our contributions to the field of pediatric epilepsy research.”
Epilepsy and gene expression
The conference in Los Angeles in early December featured two investigator workshops led by CHOC physicians.
Pediatric epileptologist and Epilepsy Medical Director Dr. Donald Phillips presented on “Spatial Transcriptomics in Epilepsy: Challenges, Insights and Early Lessons” along with co-presenters Xiangmin Xu, PhD, of UC Irvine; Dr. Autum Ivy of the Kennedy Krieger Institute; Dr. Samuel Guzman of the University of Colorado; and Dr. Saman Hazany of the USC Keck School of Medicine.
As the panel members noted, insights into epilepsy gene expression have evolved rapidly with the evolution of cell-type specific sequencing techniques.
“The position of any given cell, relative to neighboring cells and structures, can help characterize cell and tissue function and dysfunction,” Dr. Phillips said. “This may be particularly true in network diseases like epilepsy. Understanding which cell types, networks, and pathways are involved in the formation of seizures may reveal novel diagnostic and therapeutic targets.”
Single-cell transcriptomics has the potential to unlock new insights into epilepsy pathogenesis and therapeutic targets, Dr. Phillips said. Still, epilepsy is a network disease, thus characterizing gene expression within cellular networks is needed to provide insights into altered circuit functions in epilepsy, he added.
Spatial transcriptomics may illuminate these intercellular interactions by profiling single-cell gene expression in intact tissue, Dr. Phillips explained.
Dr. Xu provided an overview of spatial transcriptomic techniques with recommendations to harness their potential. Dr. Ivy provided insights into study design and data analysis from a pediatric neocortical epilepsy pilot study.
And Drs. Hazany and Guzman highlighted recent findings in a mesial temporal lobe epilepsy case that involved combining spatial transcriptomics with advanced MRI imaging techniques.
Epilepsy and autism
In the second CHOC-led investigator workshop, pediatric neurologist and epileptologist Dr. Virginia Liu presented on “Autism and Epilepsy: Converging Networks, Genetics, and Emerging Technologies” with co-presenters Dr. Sharief Taraman, a pediatric neurologist at CHOC, and Dr. Shafali Jeste of Children’s Hospital of Los Angeles.
The panel members explained that the burden of epilepsy with comorbid autism is significant and particularly devasting due to associated impairments in social and language ability – human functions essential for building relationships and improving the quality of life for patients.
Research now reveals evidence for converging neural networks and genetic landscapes that underlie both autism and epilepsy. This bridges the current understanding of shared pathophysiology of autism and epilepsy to ignite further discourse regarding the role of emerging technologies, such as artificial intelligence and neuromodulation, for broadening the diagnostic and therapeutic repertoire for these disease states.
Dr. Jeste, neurology division chair at CHLA, discussed her insights gleaned from her years of expertise regarding clinical trial readiness and precision medicine for autism.
Dr. Taraman discussed how to leverage AI for the diagnosis and treatment of autism.
Poster presentations
The AES conference featured more than 100 live educational sessions led by renowned researchers and epilepsy specialists. More than 1,500 research posters were displayed in-person or were accessible via an online poster gallery.
The CHOC Epilepsy Team and researchers presented 12 abstracts at the AES conference:
- “Epileptologist Agreement in Identifying Absence Seizure: Evidence for a Minimum Threshold of 7 Seconds,” Dr. Phillips
- “Factors Influencing Surgical Approach and Seizure Outcomes in Pediatric Mri-positive Temporal Lobe Epilepsy: One-stage versus Two-stage Surgical Interventions,” pediatric neurologist Dr. Pilar Pichon and Dr. Daniel Shrey, a pediatric epilepsy specialist
- “Discovering Novel High Frequency Ieeg Biomarkers of Seizure Generating Tissue Through Time-frequency Analysis,” Dr. Shrey
- “Influence of Diagnostic Testing on Surgical Outcomes in Non-lesional Focal Pediatric Epilepsy: Insights from PERC Cohort,” Drs. Shrey and Pichon, and neurosurgeon Dr. Joffre Olaya, Division Chief of Neurosurgery at CHOC
- “Sources, Sinks, and Spirals: Bridging the Micro and Macro Scales of Seizure Wave Dynamics,” Drs. Shrey and Olaya
- “Factors Associated with Favorable Surgical Outcomes in Children with Drug-resistant Epilepsy Secondary to Neonatal/perinatal Arterial Stroke: Insights from Pediatric Epilepsy Research Consortium,” Drs. Pichon and Shrey
- “Patient and Pre-surgical Testing Characteristics Contributing to Duration of Evaluation: Identifying Best Practices and Opportunities to Streamline Pediatric Epilepsy Surgery Evaluation,” Drs. Pichon and Shrey
- “Treatment Practices for Infantile Epileptic Spasms Syndrome: Consensus and Variation in Major U.S. Pediatric Epilepsy Centers,” Dr. Shrey
- “Five-year Seizure Outcomes of Pediatric NCL2 Patients Treated with Cerliponase Alfa,” pediatric neurologist and epilepsy specialist Dr. Maija Steenari and Dr. Olaya
- “Adapting a Clinical Trial for Epilepsy During a Pandemic and US Racial Reckoning – Applications for Pediatric Research,” Dr. Heather Hustzi and Jessica Ardo, MSW
- “Practices for Neuropsychological Testing in Children with Intractable Epilepsy Undergoing Corpus Callosotom,” Heather Hennrick, PhD, a pediatric neuropsychologist
- “Latent Cognitive Phenotypes in 791 Pediatric Pre-surgical Epilepsy Patients,” Heather Hennrick
CHOC Hospital was named one of the nation’s best children’s hospitals by U.S. News & World Report in its 2024-25 Best Children’s Hospitals rankings and ranked in the neurology/neurosurgery specialty.
