Article

Expanding the GEFS+ Spectrum: Functional Characterization Of A SCN1B Variant

2025-12-01

Abstract excerpt

<title>Abstract</title> <p> Epilepsy is the most common chronic pediatric neurologic disorder. Pathogenic variants in <italic>SCN1B</italic> , encoding the β1 subunit of voltage-gated Na <sup>+</sup> channels are associated with a spectrum of epileptic syndromes, including generalized epilepsy with febrile seizures plus (GEFS+). Here, we report a boy presenting with early-onset epilepsy, ataxia and language...

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Literature Corpus work: 42ab98df-560a-5ff0-8af1-3fe0f07c0c70
DOI: 10.21203/rs.3.rs-7958282/v1

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