Related Experiment Video

Updated: Jun 27, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Infantile GM1 Gangliosidosis with Epilepsy Associated with a Same-Codon GLB1 Variant (c.808T>G/c.808T>C)

Rimma Gamirova1, Arina Grishagina1, Elena Gorobets2

  • 1Neurocognitive Research Laboratory, Department of Neurology with Courses in Psychiatry, Clinical Psychology, and Medical Genetics, Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, 18 Kremlevskaya St., Kazan 420008, Russia.

Genes
|June 26, 2026
PubMed
Summary

This study details a novel compound heterozygous allelic combination (p.Tyr270Asp and p.Tyr270His) in the GLB1 gene causing severe infantile GM1 gangliosidosis. Codon 270 is a critical hotspot for beta-galactosidase activity.

Keywords:
GLB1GM1 gangliosidosiscodon 270epilepsygenotype–phenotype correlationβ-galactosidase

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