一个新型的KCNQ2变体在一个患有联合震综合征的患者中
Giulia Paparella1,2, Eleonora Galosi2, Emanuele Cerulli Irelli2
1IRCCS Neuromed, Pozzilli (IS), Italy.
基因查在患有联合震综合征的患者中发现了一种新的KCNQ2基因变异,这表明这种神经疾病的潜在遗传原因.
科学领域:
- 神经遗传学 神经遗传学
- 分子神经学分子神经学
背景情况:
- 震障碍是异质的,通常具有遗传基础.
- 了解复杂综合征的遗传基础对于诊断和治疗至关重要.
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