RT @DanielGCalame: https://t.co/trCku9x7LI Dongxue Mao, Tuan Chao, myself and others first described EIF2AK2 as the cause of LEUDEN syndro…
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https://t.co/trCku9x7LI Dongxue Mao, Tuan Chao, myself and others first described EIF2AK2 as the cause of LEUDEN syndrome (MIM#618877, Leukoencephalopathy, Developmental Delay, and Episodic Regression Syndrome). Curiously, only 3 of 8 individuals with LEU
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. https://t.co/L1Ue324sN1
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Heterozygous de novo missense variants in EIF2AK1 and EIF2AK2 are associated with developmental delay, impaired language, cognitive impairment, ataxia, leukoencephalopathy, and neurologic decompensation. @AJHGNews https://t.co/I29EIva3uX