Relationship of Electrophysiological Dysfunction and Clinical Severity in SCN2A-Related Epilepsies.

Variants in the SCN2A gene cause a broad spectrum of epilepsy syndromes of variable severity including benign neonatal-infantile epilepsy (BFNIE), developmental and epileptic encephalopathies (DEE), and other neuropsychiatric disorders. Here, we studied three newly identified variants, which caused distinct phenotypes observed in nine affected individuals of three families, including BFNIE, and DEE with intractable neonatal seizures.


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Human Mutation, 2018.
Lauxmann, Stephan, et al.