Long-term Neurological Outcomes in KCNQ2 Developmental and Epileptic Encephalopathy
Abstract number :
2.238
Submission category :
4. Clinical Epilepsy / 4B. Clinical Diagnosis
Year :
2024
Submission ID :
109
Source :
www.aesnet.org
Presentation date :
12/8/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Yao-Lun Yang, MD – Taichung Veterans General Hospital
Hsiu-Fen Lee, MD PhD – Taichung Veterans General Hospital
Ching-Shiang Chi, MD – Taichung Veterans General Hospital
Chi-Ren Tsai, PhD – Taichung Veterans General Hospital
Chin-Hsuan Chen, MT – Taichung Veterans General Hospital
Li-Wen Wang, MT – Taichung Veterans General Hospital
Pei-Yu Wu, MD – Taichung Veterans General Hospital
Shu-Ning Liu, MD – Taichung Veterans General Hospital
Rationale: Mutation of the KCNQ2 gene could cause developmental and epileptic encephalopathy (DEE).1 The aim of this study was to describe the electroclinical features and long-term neurological outcomes in KCNQ2 DEE.
Methods: This was a retrospective cohort study conducted in a single medical center from January 2016 to December 2023. Individuals who were diagnosed with KCNQ2 DEE were recruited. Those individuals without available electroencephalography (EEG) and brain magnetic resonance imaging (MRI) records were excluded. Demographic data, clinical manifestations, EEG features, brain MRI findings, and neurological outcomes of the eligible individuals were analyzed.
Results: Nine individuals, 5 males and 4 females, were diagnosed with KCNQ2 DEE. The median age at disease onset was 3 days old. The initial symptom was seizure in 7 individuals and developmental delay in 2. Seven individuals (7/9; 78%) exhibited dystonia at the median age of 5 months old. Polymorphic seizure semiology included generalized tonic seizures, focal tonic or clonic seizures, and myoclonic seizures. Initial EEG showed focal epileptiform discharges in 8 individuals, and burst suppression pattern in 3. Follow-up EEG features varied widely, including fast activities, polymorphic slow waves, and focal epileptiform discharges. Brain MRIs revealed normal features and nonspecific findings. All these patients had psychomotor impairment.
Conclusions: KCNQ2 DEE was characterized by neonatal-onset seizures and psychomotor impairment. Electroclinical features, such as infantile-onset dystonia and burst suppression pattern, could serve as indicators for molecular diagnosis in KCNQ2 DEE.
Funding: The authors did not receive support from any organization for the submitted work.
Clinical Epilepsy