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Epilepsy phenotypes and responses to antiseizure medications in pediatric patients with EEF1A2-related epilepsy
Hee-Jeong Yun1, Soo Yeon Kim2, Woojoong Kim3
1Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea.
Insights
EEF1A2-related epilepsy presents a wide range of symptoms, from severe early-onset conditions to milder forms. Broad-spectrum antiseizure medications (ASMs) effectively controlled seizures in most pediatric patients.
Area of Science:
- Genetics and Neurology
- Pediatric Epilepsy Syndromes
Background:
- Epilepsy associated with EEF1A2 mutations presents a complex clinical spectrum.
- Understanding the phenotype and treatment response is crucial for managing pediatric patients.
Purpose of the Study:
- To delineate the spectrum of epilepsy phenotypes in EEF1A2-related epilepsy.
- To evaluate the efficacy of antiseizure medications (ASMs) in pediatric patients with EEF1A2 mutations.
Main Methods:
- Retrospective analysis of 76 pediatric patients with EEF1A2 mutations (7 institutional, 69 literature).
- Data collected included seizure onset, types, epilepsy syndromes, ASM response, and neurodevelopmental outcomes.
- Epilepsy syndromes classified per International League Against Epilepsy guidelines.
Main Results:
- Epilepsy was present in 80% of patients, with a median onset at 4.5 months; 56% began before 12 months.
- Generalized seizures predominated (67%), including epileptic spasms.
- Developmental epileptic encephalopathy (DEE) occurred in 59%, with milder phenotypes also noted.
- Broad-spectrum ASMs (valproic acid, lamotrigine, levetiracetam) controlled seizures in 65% of patients.
- Specific mutations (p.Gly70Ser, p.Glu122Lys) correlated with severe DEE.
Conclusions:
- EEF1A2-related epilepsy exhibits a broad phenotypic spectrum, ranging from severe early-onset to milder forms.
- Certain EEF1A2 mutations are associated with severe developmental epileptic encephalopathy (DEE).
- Effective seizure control can be achieved in a majority of patients using broad-spectrum ASMs.
Objective:
To delineate the epilepsy spectrum and evaluate the response of pediatric patients with EEF1A2-related epilepsy to antiseizure medications (ASMs).
Methods:
We conducted a retrospective analysis of seven pediatric patients with EEF1A2 mutations identified at our institution, combined with 69 cases from prior literature, resulting in a cohort of 76 patients. Data for age of seizure onset, seizure types, epilepsy syndromes, ASM responses, and neurodevelopmental outcomes were collected and analyzed. Epilepsy syndromes were classified following the International League Against Epilepsy guideline.
Results:
Among the 76 patients, 61 (80 %) presented with epilepsy, with a median seizure onset age of 4.5 months. Of these, 56 % experienced seizure onset before the age of 12 months. Generalized seizures were predominant (67 %), including epileptic spasms, myoclonic, tonic, and tonic-clonic seizures. Developmental epileptic encephalopathy (DEE) was observed in 59 % of patients, although a range of milder epilepsy phenotypes was also present. Broad-spectrum ASMs, such as valproic acid, lamotrigine, and levetiracetam, demonstrated effectiveness in controlling seizures in 65 % of patients. Recurrent mutations such as p.Gly70Ser and p. Glu122Lys were predominantly associated with severe DEE.
Conclusions:
EEF1A2-related epilepsy encompasses a broad spectrum of phenotypes, from early-onset severe syndromes to milder forms. Specific mutations within EEF1A2 seemed to be correlated with severe DEE.
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