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Article

Epilepsy with auditory features

28 May 2015

Abstract excerpt

OBJECTIVE: To identify novel genes implicated in epilepsy with auditory features (EAF) in phenotypically heterogeneous families with unknown molecular basis. METHODS: We identified 15 probands with EAF in whom an LGI1 mutation had been excluded. We performed electroclinical phenotyping on all probands and available affected relatives. We used whole-exome sequencing (WES) in 20 individuals with EAF (including all...

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PMID: 27066544
DOI: 10.1212/nxg.0000000000000005

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