{"id":2062,"date":"2025-05-12T13:00:08","date_gmt":"2025-05-12T13:00:08","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2062"},"modified":"2026-02-22T01:11:27","modified_gmt":"2026-02-22T01:11:27","slug":"identification-of-macf1-as-a-causative-gene-of-generalised-epilepsy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/05\/12\/identification-of-macf1-as-a-causative-gene-of-generalised-epilepsy\/","title":{"rendered":"Identification of MACF1 as a causative gene of generalised epilepsy (Contributed by Xiao-Yun Lei)"},"content":{"rendered":"

Generalised epilepsies are believed to be genetically determined, but the genetic causes for most patients remain unknown. The present study identified MACF1<\/em> variants in 10 patients with generalised epilepsy from the China Epilepsy Gene 1.0 Project. The gene-disease association was supported by an excess of variants, genotype-phenotype correlation, and data from spatial-temporal expression and single-cell sequencing. 3 patients showed neurodevelopmental delay, potentially related to plakin domain variants. In adults, MACF1<\/em> is predominantly expressed in the mediodorsal nucleus of the thalamus, an important area linked to generalised epilepsy. This study suggests that MACF1<\/em> is a novel causative gene for generalised epilepsy. (https:\/\/jmg.bmj.com\/content\/early\/2025\/05\/10\/jmg-2025-110699<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Generalised epilepsies are believed to be genetically determined, but the genetic causes for most patients remain unknown. The present study identified MACF1 variants in 10 patients with generalised epilepsy from the China Epilepsy Gene 1.0 Project. The gene-disease association was supported by an excess of variants, genotype-phenotype correlation, and data from spatial-temporal expression and single-cell […]<\/p>\n

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The present study identified MACF1 variants in 10 patients with generalised epilepsy from the China Epilepsy Gene 1.0 Project. 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