Associated Papers
A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia.
Musacchio T et al.
Annals of Neurology, 2021
EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease.
Calame DG et al.
Neurology. Genetics, 2021
A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.
Macintosh J et al.
Child Neurology Open, 0
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