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Article

UNC13A-related neurodevelopmental disorders in children: epilepsy phenotypes and antiseizure medication response.

Seizure - 1 Aug 2026

Zhao Hai-Qing, Li Xian-Ze, Ma Yu, Wang Rong, Zhang Jian-Zhao, Hui Ling, Liu Hu, Zou Li-Ping, Wang Yi

Abstract excerpt

PURPOSE: Pathogenic UNC13A variants are increasingly recognized in pediatric neurodevelopmental disorders, but epilepsy phenotypes and antiseizure medication (ASM) responses remain poorly characterized. This study aimed to define the epileptic spectrum of UNC13A-related disorders in children and identify effective ASM strategies. METHODS: We retrospectively analyzed 10 children with pathogenic/likely pathogenic...

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Anticonvulsants
Electroencephalography
Epilepsy
Infant
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Nerve Tissue Proteins

Neurodevelopmental Disorders

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PMID: 42385283
DOI: 10.1016/j.seizure.2026.06.003

Genes

UNC13A

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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