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July 9, 2024CureusOpen Access

Deciphering the Complexities of Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) Mutation: A Case of Intractable Epilepsy in a Five-and-a-Half-Month-Old Male

Indrayani Jadhav Keta Vagha Ashish Varma Jayant D Vagha Yash V Lath Jaywant Jadhav

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Key Points

A five-and-a-half-month-old male presented with severe intractable epilepsy associated with an SCN1A mutation, leading to persistent seizures.
Clinical evaluation identified a pathogenic variant in the sodium voltage-gated channel alpha subunit 1, guiding specific medical management.
Findings highlight the importance of early genetic screening for intractable epilepsy cases, supporting targeted sodium channel treatment.

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Implication

Case report reveals intractable epilepsy linked to an SCN1A mutation in an infant, highlighting diagnostic challenges.

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Cite This Study

Jadhav et al. (2024) studied this question.

synapsesocial.com/papers/68e60e57b6db6435875a1dbb https://doi.org/10.7759/cureus.64171

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypescase_series · 2022 · 8 citations
2Sodium channel mutations in epilepsy and other neurological disordersOriginal Research · 2005 · 512 citations
3<i>SCN2A</i> mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and paincase_report · 2010 · 171 citations
4Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy2024 · 8 citations
5Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage‐gated sodium channel functionpreclinical · 2021 · 24 citations

Comparative structural analysis of human Na <sub>v</sub> 1.1 and Na <sub>v</sub> 1.5 reveals mutational hotspots for sodium channelopathies2021
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy2014
A mutation of<i>SCN1B</i>associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel2018
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