Genotype-phenotype correlations and clinical spectrum of ALG13-related developmental epileptic encephalopathy.
SeizureJul 3, 2026 (epub)
Song Su, Wenchao Zhang, Ying Ren et al.
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In 30 seconds
This systematic review analyzed 100 cases of pathogenic ALG13 variants, focusing on genotype-phenotype correlations in developmental epileptic encephalopathy 36 (DEE36). The N107S variant was present in 70% of cases, with epilepsy observed in 87% of the cohort. Notably, 98.6% of individuals with the N107S variant experienced seizures, typically starting at a median age of 5.0 months.
Key findings
- The N107S variant accounted for 70% of cases, with a female predominance of 81.4%.
- Epilepsy was present in 87% of the overall cohort and 98.6% of N107S individuals.
- Seizures typically began in infancy, with a median onset age of 5.0 months for N107S cases.
- 42.9% of patients achieved seizure freedom, while 57.1% had drug resistant epilepsy.
Why it matters
Understanding the genotype-phenotype correlations in ALG13-related developmental epileptic encephalopathy can guide clinicians in diagnosis and management. Early identification of the N107S variant may facilitate timely interventions and improve patient outcomes.