Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy

Key Points

These results demonstrate the varied impact of the A1659V variant on channel activity and its role in clinical effects.
Pharmacological variability linked to the A1659V variant can impact treatment strategies for SCN2A-related disorders.

Structured PICO

Population

SCN2A A1659V variant model for early infantile developmental and epileptic encephalopathy

Outcome

Channel activity and genotype-phenotype correlationsurrogate

The A1659V variant in SCN2A exhibits complex functional effects on channel activity, contributing to the clinical variability in related encephalopathies.

Abstract

These results revealed the multifaceted functional effect of A1659V variant on channel activity and highlighted the complex genotype-phenotype correlation underlying significant clinical and pharmacological variability in SCN2A-related encephalopathies.

Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy

Key Points

Structured PICO

Abstract

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