Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies
Abstract Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2017-03-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-017-00208-6 |