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March 13, 2024Open Access

De novo variants of IRF2BPL result in developmental epileptic disorder

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Resumen

Pathogenic variants of the IRF2BPL gene have been reported to cause neurodevelopmental disorders; however, studies focused on IRF2BPL in zebrafish are limited.

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De novo variants of IRF2BPL result in developmental epileptic disorder | Synapse

Cite This Study

Wang et al. (Wed,) studied this question.

synapsesocial.com/papers/68e7434cb6db6435876bc7df https://doi.org/https://doi.org/10.1186/s13023-024-03130-z

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1<i>IRF2BPL</i> as a novel causative gene for progressive myoclonus epilepsy2023 · 14 citations
2Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature2022 · 20 citations
3<i>IRF2BPL</i>: A new genotype for progressive myoclonus epilepsies2023 · 15 citations
4IRF2BPL mutation causes nigrostriatal degeneration presenting with dystonia, spasticity and keratoconus2020 · 30 citations
5Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration2021 · 19 citations