A novel CACNA1A mutation in a neonate with severe encephalopathy at birth

Acta Neurol Belg. 2024 Apr;124(2):705-708. doi: 10.1007/s13760-023-02453-1. Epub 2023 Dec 11.

Authors

Mine Ozdil¹, Arzu Eroglu², Hamide Betul Gerik-Celebi³

Affiliations

¹ Division of Neonatology, Department of Pediatrics, Balikesir Atatürk City Hospital, University of Health Sciences Türkiye, Balikesir, Türkiye. mineozdil81@hotmail.com.
² Division of Pediatric Neurology, Department of Pediatrics, Atatürk City Hospital, Balikesir, Türkiye.
³ Department of Medical Genetics, Atatürk City Hospital, Balikesir, Türkiye.

PMID: 38079102
DOI: 10.1007/s13760-023-02453-1

No abstract available

Keywords: CACNA1A; Encephalopathy; Epilepsy; Genetic; Neonate.

Publication types

Case Reports
Letter

MeSH terms

Brain Diseases* / diagnostic imaging
Brain Diseases* / genetics
Calcium Channels / genetics
Calcium Channels, N-Type
Humans
Infant, Newborn
Mutation / genetics

Substances

Calcium Channels
CACNA1A protein, human
Calcium Channels, N-Type