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GABA(A) Receptor Subunit (γ2, δ, β1-3) Variants in Genetic Epilepsy: A Comprehensive Summary of 206 Clinical Cases.

Journal of child neurology - 1 Aug 2024

Zhu Xinyi, Li Peijun

Abstract excerpt

Epilepsy is identified in individuals who experienced 2 or more unprovoked seizures occurring over 24 hours apart, which can have a profound impact on a person's neurobiological, cognitive, psychological, and social well-being. Epilepsy is considerably diverse, with classifications such as genetic epilepsy that result directly from a known or presumed genetic variant with the core symptoms of seizures. The GABAA...

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Child
Epilepsy
Genetic Variation
Protein Subunits
Receptors, GABA-A

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PMID: 39228214
DOI: 10.1177/08830738241273437

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