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19 天
CACNA1A 突变患者的表型变异性研究:开启神经疾病精准诊疗新篇
它与一系列神经系统疾病紧密相关,如发作性共济失调(Episodic ataxia)、偏瘫型偏头痛(Hemiplegic migraine)、脊髓小脑性共济失调(Spinocerebellar ataxia)和早期婴儿癫痫性脑病(Early infantile epileptic encephalopathy )等。这些疾病的临床表现复杂多样,且症状相互重叠 ...
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