Affected individuals with EIF2AK1 gene variants are being actively recruited for clinical study to expand our understanding of the clinical phenotype and conduct genotype-phenotype mapping. Pathogenic mechanism of disease causing variants on neurons and glia are being studied in fibroblasts and animal models.
For information on the EIF2AK1-related LEMSPAD syndrome clinical study, please contact the study coordinator at chao-lab@bcm.edu or (+1) 832-826-0454