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A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

2022-06-03

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Heterozygous pathogenic variants in DNM1 cause developmental and epileptic encephalopathy (DEE) due to a dominant-negative mechanism impeding vesicular fission. Thus far, pathogenic variants in DNM1 have been studied using a canonical transcript that includes the alternatively spliced exon 10b. However, after performing RNA sequencing in thirty-nine pediatric brain samples, we find the primary transcript express...

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Literature Corpus work: 7ca20f46-d31d-5eb7-8f3e-11086878bfa0
DOI: 10.1101/2022.06.02.492389

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A recurrent <i>de novo</i> splice site variant involving <i>DNM1</i> exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

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