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A EIF2AK2 missense variant misdiagnosed as autoimmune encephalitis
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DOI：10.1016/j.parkreldis.2025.108151.png)
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Abstract
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• A de novo heterozygous missense variant at c.92 C>G (p.Pro31Arg) of EIF2AK2。 • The child was misdiagnosed as having immune encephalitis in the early stage. • T2/FLAIR hyperintense lesions in the lenticular nucleus, caudate nucleus and dentate nucleus. • Lesions of the lenticular nucleus and the dentate nucleus of the cerebellum in our case。
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