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Updated: Sep 13, 2025

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

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在婴儿下一代测序方法中,发育性和性脑病变的表型和基因型之间的关联:范围审查

A Triono1, E S Herini1, K H Mooiindie1

  • 1Universitas Gadjah Mada/Dr. Sardjito Hospital, Faculty of Medicine, Public Health and Nursing, Neurology Division, Department of Child Health, Yogyakarta Indonesia.

The Medical journal of Malaysia
|July 31, 2025
PubMed
概括

像STXBP1,SLC1A2,CDKL5,SCN1A和KCNT1这样的遗传变异是早期发作的发育性和性脑病变 (DEE) 的关键. 了解这些基因表型相关性有助于对DEE的诊断和治疗计划.

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