Epileptic Phenotypes and Responses to Anti-seizure Medications in Pediatric Patients with eef1a2-related Epilepsy
Abstract number :
3.343
Submission category :
4. Clinical Epilepsy / 4D. Prognosis
Year :
2024
Submission ID :
183
Source :
www.aesnet.org
Presentation date :
12/9/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Hee-Jeong Yun, MD – Seoul National University Hospital
Jong Ho Cha, MD – Seoul National University Hospital
Jee Min Kim, MD – Seoul National University Hospital
Soo Yeon Kim, MD, PhD – Seoul National University Hospital
Woo Joong Kim, MD, PhD – Seoul National University Hospital
Seungbok Lee, MD, PhD – Seoul National University Hospital
Jong-Hee Chae, MD, PhD – Seoul National University Hospital
Ki Joong Kim, MD, PhD – Seoul National University Hospital
Byung Chan Lim, MD, PhD – Seoul National University Children's Hospital
Rationale: Translation elongation factor EF1A2 has been reported to be associated with developmental and epileptic encephalopathy. To date, 68 patients with pathogenic variants in EF1A2 have been reported, each correlated with varying degrees of neurodevelopmental status and seizure control. This study reports 7 new cases with EF1A2 pathogenic variants and aims to provide the epileptic phenotypes and responses to anti-seizure medications of EEF1A2-related epilepsy patients.
Methods: We retrospectively reviewed 7 patients with confirmed EF1A2 pathogenic variants in Seoul National University Children’s Hospital and compared these cases to the previously reported 68 patients. Our study analyzed age of seizure onset, seizure type, response to anti-seizure medication, epilepsy syndrome, and neurodevelopmental outcome.
Results: Epilepsy was present in 5 out of 7 patients (5/7, 71%). Extended to the entire reported patients, all but 16 patients had epilepsy (59/75; 77%). Median age of seizure onset was five months (range: first day of life to 17 years). Epileptic syndromes are classified as follows; self-limited infantile epilepsy (9/58, 15%), self-limited epilepsy with autonomic seizures (1/58, 1.7%), early infantile developmental and epileptic encephalopathy (12/55, 20%), infantile epileptic spasm syndrome (5/58, 9%), and unclassified (13/58, 22%). While fifteen patients were refractory to anti-seizure medications (15/39, 36%), 24 patients (24/39, 64%) achieved seizure freedom with various anti-seizure medications (ASMs). Among the patients exhibiting epileptic phenotypes, 57 out of 59 showed developmental delays (57/59, 96%).
Conclusions: EEF1A2-related epilepsy is characterized by infantile onset and heterogenous electro-clinical syndromes ranging from self-limited epilepsy to DEE. A substantial proportion of patients with epilepsy showed favorable response to ASM. EEF1A2-related epilepsy seems to encompass broad spectrum of epilepsy phenotype not limited to DEE.
Funding: This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors
Clinical Epilepsy