Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies.
KDM5A is a critical chromatin-modifying enzyme with lysine-specific demethylase activity and is highly expressed in brain tissues. Biallelic pathogenic variants in KDM5A are linked to KDM5A-related neurodevelopmental disorders, a rare disorder involving significant cognitive and motor impairments.
KDM5A is a critical chromatin-modifying enzyme with lysine-specific demethylase activity and is highly expressed in brain tissues. Biallelic pathogenic variants in KDM5A are linked to KDM5A-related neurodevelopmental disorders, a rare disorder involving significant cognitive and motor impairments.
What the study was
- Study design
- Journal Article (unspecified)
- Category
- Diagnostics
- Maturity
- Exploratory
- Journal
- J Hum Genet
Why it surfaced
Matched watchlist topic 'Rare diseases with high unmet need'. Study design: Journal Article (unspecified). Score: 8/10 (N:3, R:2, D:1, P:2).
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