HIGHLIGHTS
- who: Sorina M. Papuc from the (UNIVERSITY) have published the Article: The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study, in the Journal: (JOURNAL)
- future: Reports and functional studies are needed to evaluate the potential role of this gene in neurodevelopmental disorders.
SUMMARY
The term epileptic encephalopathy (EE) denotes a rare group of severe, early-onset epilepsies that tend to be pharmacoresistant with generally poor outcome and often severe intellectual disability. A large wholeexome sequencing study in "epileptic encephalopathy" patients established . . .
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