Genotype-phenotype correlations and clinical spectrum of ALG13-related developmental epileptic encephalopathy.

doi:10.1016/j.seizure.2026.07.002

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Article

Genotype-phenotype correlations and clinical spectrum of ALG13-related developmental epileptic encephalopathy.

Seizure - 1 Sept 2026

Su Song, Zhang Wenchao, Ren Ying, Hu Wandong, Liu Guiling, Li Juan, Zhang Hongwei

Abstract excerpt

BACKGROUND: Pathogenic variants in Asparagine-linked glycosylation 13 (ALG13) gene are associated with developmental and epileptic encephalopathy 36 (DEE36). The recurrent missense variant c.320A>G (p.Asn107Ser, N107S) represents the most frequently reported disease associated hotspot variant. However, genotype-phenotype correlations and factors associated with seizure and neurodevelopmental outcomes remain...

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Identifiers

PMID: 42418860
DOI: 10.1016/j.seizure.2026.07.002

Genes

ALG13

Variants

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