Publication: De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
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Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., et al, Zweier, M., & Schmitt-Mechelke, T. (2019). De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Genetics in Medicine, 21(4), 1008–1014. https://doi.org/10.1038/s41436-018-0143-0
Abstract
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Abstract
PURPOSE Developmental and epileptic encephalopathies (DEEs) are severe clinical conditions characterized by stagnation or decline of cognitive and behavioral abilities preceded, accompanied or followed by seizures. Because DEEs are clinically and genetically heterogeneous, next-generation sequencing, especially exome sequencing (ES), is becoming a first-tier strategy to identify the molecular etiologies of these disorders. METHODS We combined ES analysis and international data sharing. RESULTS We identified 11 unrelated individua
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- Tran Mau-Them, F
- Guibaud, L
- Duplomb, L
- Keren, B
- Lindstrom, K
- Marey, I
- Mochel, F
- Schmitt-Mechelke, T
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Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., et al, Zweier, M., & Schmitt-Mechelke, T. (2019). De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Genetics in Medicine, 21(4), 1008–1014. https://doi.org/10.1038/s41436-018-0143-0
