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Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

30 Jul 2016

Abstract excerpt

BACKGROUND: Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation. METHODS: To increase the number of validated EE genes, we sequenced 26 known and 351 candidate genes for EE in 360 patients. Variants in 25 genes known to be involved...

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PMID: 27652284
DOI: 10.1002/mgg3.235

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