Review
Open access
Jul 2026
Genotype-phenotype correlations and clinical spectrum of ALG13-related developmental epileptic encephalopathy.
A pooled analysis delineates the phenotypic spectrum of ALG13-related epilepsy and emphasizes the prominence of the N107S hotspot variant, which is associated with more severe neurodevelopmental outcomes.
Song Su, Wenchao Zhang, Ying Ren et al.
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