Video Experimental Relacionado

Updated: Sep 10, 2025

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

492

Variantes de ATP2B1 asociadas con epilepsia generalizada sin trastornos del desarrollo neurológico y el mecanismo

Jun-Hui Zhu1, Zheng Chen2, Chuan-Fang Cheng3

  • 1Department of Neurology, The Seventh Affiliated Hospital of Sun Yat-Sen University, Shenzhen 518107, China.; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou 510260, China.

Seizure
|August 20, 2025
PubMed
Resumen

El gen ATP2B1 está relacionado con la epilepsia generalizada. Las variantes específicas en ATP2B1 pueden causar epilepsia, mientras que las variantes más graves están asociadas con trastornos del desarrollo neurológico, lo que explica las diferencias fenotípicas.

Palabras clave:
El gen ATP2B1Resultados favorablesEpilepsia generalizadaCorrelación genotipo-fenotipoEn el caso de las PYME:Secuenciación de todo el exoma basado en trios

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