Synonymous variants in the ATP6AP2 gene may lead to developmental and epileptic encephalopathy.

ABSTRACT:

Objective

To the literature, variants in the ATP6AP2 gene may cause abnormal nervous system development and associated neurological symptoms.

Methods

We report a patient with developmental and epileptic encephalopathy (DEE) carrying an ATP6AP2 c.858G > A (p.Ala286=) synonymous variant. In addition, an overview of reported patients with the same variant were collected and summarized to compare our findings.

Results

The patient started experiencing tonic seizures at 3.5 months of age, and magnetic resonance imaging (MRI) indicated impaired brain white matter development and reduced left hippocampal volume. Furthermore, electroencephalography showed multifocal interictal epileptiform discharges. Treatment with various anti-seizure medications yielded unsatisfactor

SUBMITTER: Liang Y 

PROVIDER: S-EPMC10808393 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature