De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
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DOI: 10.1038/s41436-018-0143-0
Abstract: PurposeDevelopmental 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… read more here.
Keywords: truncating variants; variants intronless; irf2bpl responsible; novo truncating ... See more keywords