ArticleTranslational pediatrics2025
Neurodevelopmental disorder due to a frameshift mutation in the
Article in Translational pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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4 authors.
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Abstract
Background: Pathogenic variants in Case Description: A 23-month-old boy presented with subacute gait ataxia following a viral illness. Neuroimaging, cerebrospinal fluid analysis, and an extensive autoimmune panel were unremarkable. Initial immunotherapy with high-dose corticosteroids and intravenous immunoglobulin (IVIG) led to transient improvement. Five months later, he developed recurrent ataxia, speech regression, drooling, and global developmental delay, still without overt seizures. Video electroencephalogram (EEG) revealed electrical status epilepticus during slow-wave sleep (ESES) with a spike-wave index exceeding 85%. Trio-based whole genome sequencing identified a novel heterozygous frameshift variant in Conclusions: This case expands the phenotypic spectrum of
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