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PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel
Jiwon Lee1, Young Ok Kim2, Byung Chan Lim3
1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Insights
Self-limited infantile epilepsy (SeLIE) linked to PRRT2 gene variants presents with specific seizure patterns. Sodium channel blockers like carbamazepine are effective for controlling these seizures, especially clustered tonic-clonic types.
Area of Science:
- Neurology
- Genetics
- Epilepsy
Background:
- Self-limited infantile epilepsy (SeLIE) is a distinct epilepsy syndrome.
- Mutations in the PRRT2 gene are a significant genetic cause of SeLIE.
- Effective anti-seizure medication (ASM) strategies are crucial for initial seizure control.
Purpose of the Study:
- To characterize the clinical presentation of PRRT2-positive SeLIE.
- To identify effective ASMs for seizure management in PRRT2-related epilepsy.
- To aid in the early recognition of PRRT2-positive SeLIE.
Main Methods:
- Retrospective review of 36 patients with genetically confirmed PRRT2 pathogenic variants.
- Inclusion of six atypical cases to expand the clinical spectrum.
- Analysis of seizure semiology, clinical course, and ASM response.
Main Results:
- Characteristic seizure semiology included afebrile, clustered, short-duration, bilateral tonic-clonic seizures.
- The c.649dupC variant was most common; some cases involved 16p11.2 microdeletion.
- Sodium channel blockers (e.g., carbamazepine) demonstrated the highest efficacy for seizure control.
Conclusions:
- PRRT2-positive SeLIE exhibits distinct clinical features.
- Early consideration of PRRT2-positive SeLIE is warranted for infants with clustered afebrile tonic-clonic seizures.
- Sodium channel blockers are recommended as first-line treatment for seizure control.
Objective:
Self-limited infantile epilepsy (SeLIE) has distinctive clinical features, and the PRRT2 gene is known to be a considerable genetic cause. There have been a few studies on PRRT2-positive SeLIE only, and anti-seizure medications are often required due to frequent seizures at initial seizure onset. This study aimed to provide clinical information for the early recognition of patients with PRRT2-positive SeLIE and to propose effective anti-seizure medications for seizure control.
Methods:
We retrospectively reviewed 36 patients diagnosed with SeLIE with genetically confirmed pathogenic variants of PRRT2. In addition, six atypical cases with neonatal-onset seizures and unremitting after 3 years of age were included to understand the expanded clinical spectrum of PRRT2-related epilepsy. We analyzed the initial presentation, clinical course, and seizure control response to anti-seizure medications.
Results:
Patients with PRRT2-related epilepsy had characteristic seizure semiology at the initial presentation, including all afebrile, clustered (n = 23, 63.9%), short-duration (n = 33, 91.7%), and bilateral tonic-clonic seizures (n = 26, 72.2%). Genetic analysis revealed that c. 649dupC was the most common variant, and six patients had a 16p11.2 microdeletion containing the PRRT2 gene. One-third of the patients were sporadic cases without a family history of epilepsy or paroxysmal movement disorders. In the 33 patients treated with anti-seizure medications, sodium channel blockers, such as carbamazepine, were the most effective in seizure control.
Significance:
Our results delineated the clinical characteristics of PRRT2-positive SeLIE, differentiating it from other genetic infantile epilepsies and discovered the effective anti-seizure medications for initial clustered seizure control. If afebrile bilateral tonic-clonic seizures develop in a normally developed infant as a clustered pattern, PRRT2-positive SeLIE should be considered as a possible diagnosis, and sodium channel blockers should be administered as the first medication for seizure control.
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