Article
Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype.
Cells - 5 Jan 2023
Zsurka Gábor, Appel Maximilian L T, Nastaly Maximilian, Hallmann Kerstin, Hansen Niels, Nass Daniel, Baumgartner Tobias, Surges Rainer, Hartmann Gunther, Bartok Eva, Kunz Wolfram S
Abstract excerpt
Epilepsy and mental retardation are known to be associated with pathogenic mutations in a broad range of genes that are expressed in the brain and have a role in neurodevelopment. Here, we report on a family with three affected individuals whose clinical symptoms closely resemble a neurodevelopmental disorder. Whole-exome sequencing identified a homozygous stop-gain mutation, p.Gln19*, in the BATF2 gene in the...
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