Newly discovered variants in unexplained neonatal encephalopathy.

ABSTRACT:

Background

The genetic background of neonatal encephalopathy (NE) is complicated and early diagnosis is beneficial to optimizing therapeutic strategy for patients.

Methods

NE Patients with unclear etiology received regular clinical tests including ammonia test, metabolic screening test, amplitude-integrated electroencephalographic (aEEG) monitoring, brain Magnetic Resonance Imaging (MRI) scanning, and genetic test. The protein structure change was predicted using Dynamut2 and RoseTTAFold.

Results

15 out of a total of 113 NE Patients were detected with newly reported pathogenic variants. In this sub-cohort, (1) seizure was the primary initial symptoms; (2) four patients had abnormal metabolic screening results, and two of them were also diagnosed with excessive blood a

SUBMITTER: Zhang R 

PROVIDER: S-EPMC10795097 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature