LITERATURE · PEER REVIEWED

ASH1L mutation caused seizures and intellectual disability in twin sisters

Journal of Clinical Neuroscience · 2021 · Peer reviewed

COMPLETE CITATION

Citation and identifiers

Liu H, Liu D-T, Lan S, et al.. “ASH1L mutation caused seizures and intellectual disability in twin sisters.” Journal of Clinical Neuroscience. 91:69–74 · doi:10.1016/j.jocn.2021.06.038.

PubMed ID
34373061

RESEARCH QUESTION

What do ASH1L-associated seizures and intellectual disability in twin sisters show about inheritance and within-family phenotypic comparison?

The twin report supports a within-family clinical comparison, but the related individuals are not independent recurrence events and cannot establish penetrance.

INTERPRETATION BOUNDARY

Read the finding and limit together.

What this study supports

Twin report relevant to epilepsy, inheritance, and within-family phenotypic comparison.

What it cannot establish

Related individuals are not independent recurrence events and cannot establish penetrance.

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