This website provides information on patients with mutations in the EIF1AK2 gene, including clinical data, molecular data, management and research options.

Autosomal dominant mutations in EIF2AK2 gene, located on chromosome 2p22, cause Leukoencephalopathy, Developmental delay, and Episodic Neurologic regression syndrome (LEUDEN, MIM#618877), which is characterized by developmental delay early in the childhood followed by episodic neurologic regression. Eight reported individuals were found with gait abnormalities or ataxia, poor or absent speech with dysarthria, variable cognitive impairments, hypotonia, hypertonia, involuntary movements, and variable motor abnormalities including spasticity, dystonia, extrapyramidal signs, and tremor. A spectrum of brain imaging findings were identified, including diffuse white matter abnormalities, delayed myelination and/or hypomyelination, thin corpus callosum, mild cerebellar vermian hypoplasia, and generalized cerebral atrophy with enlarged ventricles.

This website was created to share and collect information about clinical presentation, management, and ongoing research projects to gather more knowledge and provide better treatment of patients with mutations in the EIF2AK2 gene.

Hsiao-Tuan Chao, MD, PhD, Department of Pediatrics, Baylor College of Medicine (BCM); Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital; Department of Molecular and Human Genetics, BCM, Houston, Texas, USA, hsiaotuan.chao@bcm.edu

Joshi Stephen, PhD, Department of Pediatrics, Baylor College of Medicine (BCM); Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, USA, joshi.stephen@bcm.edu

Vanesa Lerma, Research Coordinator III, Department of Pediatrics, Baylor College of Medicine (BCM); Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, USA, Chao-lab@bcm.edu