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Updated: Jan 15, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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在资源有限的环境中对婴儿发作的进行基因检测

Priyanka Srivastava1, Sandeep Negi2, Melissa Baltuano3

  • 1Genetic Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Seminars in pediatric neurology
|October 11, 2025
PubMed
概括

婴儿发作的,通常是由遗传变异引起的,在资源有限的环境中构成重大挑战. 改善对基因检测的准入对于早期诊断和更好的患者结果至关重要.

关键词:
婴儿发作发作综合征肌克隆性 - - 肌克隆性韦斯特综合征是什么意思

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Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
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