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Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

14 Jun 2022

Abstract excerpt

AIM: To assess the clinical utility of exome sequencing for patients with developmental and epileptic encephalopathies (DEEs). METHOD: Over 2 years, patients with DEEs were recruited for singleton exome sequencing. Parental segregation was performed where indicated. RESULTS: Of the 103 patients recruited (54 males, 49 females; aged 2 weeks-17 years), the genetic aetiology was identified in 36 out of 103 (35%)...

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PMID: 35701389
DOI: 10.1111/dmcn.15308

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