Article

Prognostic Challenges of SCN1A Genetic Mutations: Report on Two Children with Mild Features

2016-04-28

Abstract excerpt

Mutations in the gene encoding the α-1 subunit of the voltage-gated sodium channel (SCN1A) are associated with variable but usually severe clinical course, both for the epileptic seizures and the cognitive impairment. The purpose of the present study was to retrospectively review two patients affected by seizures and two different types of SCN1A gene mutations (microdeletion and point mutation). The children (a 4-...

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Literature Corpus work: de8ef71e-53c7-5622-9ce2-e9c4fb86e8ff
DOI: 10.1055/s-0036-1583274

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