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

ABSTRACT:

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%) with management implications in 13 out of 36. Exome sequencing revealed pathogenic or likely pathogenic variants in 30 out of 103 (29%) patients, variants of unknown significance in 39 out of 103 (38%), and 34 out of 103 (33%) were negative on exome analysis. After the description of new genetic diseases, a molecular diagnosis was subsequently made for six patients

SUBMITTER: Scheffer IE 

PROVIDER: S-EPMC10952465 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature