Associated Papers
MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy.
Dang Do AN et al.
Molecular Genetics and Metabolism, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Syndromic forms of congenital hyperinsulinism.
Zenker M et al.
Frontiers in Endocrinology, 2023
37065762 (PubMed )
Supplement: Table_1.xlsx › Other_rare_monogenic_syndromes
Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome.
Ygberg S et al.
Clinical Case Reports, 2022
A (dis)integrated stress response: Genetic diseases of eIF2α regulators.
English AM et al.
Wiley Interdisciplinary Reviews. Rna, 2022
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Skopkova M et al.
Human Mutation, 2017
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
Moortgat S et al.
American Journal of Medical Genetics. Part A, 2016
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