BACKGROUND SCN2A mutations are some of the commonest causes of neurodevelopmental disorders including epilepsy, movement disorders, autism spectrum disorder, intellectual disability and rarely episodic ataxia. CASE REPORT We present a patient with a dominantly inherited SCN2A mutation presenting as episodic ataxia in a boy and episodic hemiplegia in his father. We have briefly reviewed the literature of SCN2A mutations presenting with episodic ataxia. CONCLUSION Our report has expanded the phenotype for SCN2A mutations.

中文翻译：

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显性 SCN2A 突变在两代中具有可变表型

背景 SCN2A 突变是神经发育障碍的一些最常见原因，包括癫痫、运动障碍、自闭症谱系障碍、智力障碍和罕见的偶发性共济失调。病例报告 我们介绍了一名显性遗传的 SCN2A 突变患者，表现为男孩发作性共济失调和其父亲发作性偏瘫。我们已经简要回顾了 SCN2A 突变呈现发作性共济失调的文献。结论 我们的报告扩展了 SCN2A 突变的表型。