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Updated: May 31, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Clinical and Genetic Characterization of Inherited NPRL3 Splice Variants in Two Patients With Epilepsy

Shouxing Wang1, Jihua Wu1, Conglei Song1

  • 1Department of Neurology, Anhui Provincial Children's Hospital/Children's Hospital of Fudan University (Affiliated Anhui Branch), Hefei, China.

Molecular Genetics & Genomic Medicine
|May 29, 2026
PubMed
Summary

NPRL3-related epilepsy (NRE) shows genetic and clinical variability, with incomplete penetrance. Tailored treatments are crucial for managing familial and sporadic epilepsy caused by NPRL3 variants.

Keywords:
NPRL3epilepsygenotype–phenotype correlationwhole‐exome sequencing

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