Key result
Identical twins with KCNA1 mutations showed striking differences in clinical severity, revealing a large contribution of nongenetic factors to phenotypic variability in episodic ataxia type 1.
Observational
Nongenetic factors significantly contribute to the phenotypic variability and clinical severity of episodic ataxia type 1 in patients with identical KCNA1 mutations.
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Highlights nongenetic modifiers in EA1; case report leaves open identification of specific factors before clinical application.
Graves et al. (2010) conducted an observational in Episodic ataxia type 1 (EA1). Nongenetic factors and KCNA1 mutations was evaluated on Clinical severity of symptoms and phenotypic heterogeneity. Identical twins with KCNA1 mutations showed striking differences in clinical severity, revealing a large contribution of nongenetic factors to phenotypic variability in episodic ataxia type 1.
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