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NEXMIF (HGNC:29433) has been implicated in myoclonic-astatic epilepsy (MAE) based on exome sequencing of a well-characterized MAE cohort. In a study of 101 MAE patients (70% male), pathogenic variants were identified in 12 of 85 thoroughly analyzed cases, including a novel hemizygous NEXMIF variant, supporting its contribution to MAE (PMID:32469098). No additional affected relatives with segregating NEXMIF variants were reported, and there are currently no published functional assays directly demonstrating how NEXMIF deficiency leads to the myoclonic-astatic seizure phenotype.
Overall, the evidence for NEXMIF in MAE is classified as Limited: based on a single unrelated proband and absence of segregation or mechanistic data. Further identification of additional probands, family segregation, and functional modeling are required to substantiate a definitive role.
Key Take-home: NEXMIF emerges as a candidate gene for MAE in isolated cases, but broader genetic and experimental validation is needed prior to clinical implementation.
Gene–Disease AssociationLimitedSingle unrelated proband (PMID:32469098) without segregation or functional replication Genetic EvidenceLimitedOne proband with pathogenic NEXMIF variant in MAE cohort, no segregation (PMID:32469098) Functional EvidenceNo reported evidenceNo functional studies linking NEXMIF deficiency to MAE phenotypes reported |