Work

A case of neonatal encephalopathy with non-epileptic myoclonus mimicking a congenital CMV-infection. How could two different pathologies result in a similar MRI phenotype?

Year: 2025

Type: article

Abstract: KCNQ2-related disorders are rare autosomal dominant channelopathies caused by mutations in KCNQ2, a gene that encodes a subunit of the voltage-gated potassium channel Kv7, resulting in variable phenotypes. Neonatal encephalopathy

Source: Journal of Clinical Images and Medical Case Reports

DOI: 10.52768/2766-7820/3554

Author: Camilla Russo

Institution: Santobono Children's Hospital

Language: English

Topic: Neonatal and fetal brain pathology

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4412540174

FWCI:

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Related to: 10