A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant.

ABSTRACT: Early‑onset epileptic encephalopathy (EOEE) represents one of the most severe epilepsies, characterized by recurrent seizures during early infancy, electroencephalogram (EEG) abnormalities and varying degrees of neurodevelopmental delay. The KCNQ2 gene has been reported to have a major role in EOEE. In the present study, a 3‑month‑old female infant from the Chinese Lisu minority with EOEE was analyzed. Detailed clinical evaluations and next‑generation sequencing were performed to investigate the clinical and genetic characteristics of this patient, respectively. Furthermore, the three‑dimensional structure of the mutant protein was predicted by SWISS‑Model and the expression of KCNQ2 protein in the patient was assessed by flow cytometry. It was observed that the patient presented with typi

SUBMITTER: Liu HF 

PROVIDER: S-EPMC9364154 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature