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

Mine Ozdil1, Arzu Eroglu2, Hamide Betul Gerik-Celebi3

  • 1Division of Neonatology, Department of Pediatrics, Balikesir Atatürk City Hospital, University of Health Sciences Türkiye, Balikesir, Türkiye. mineozdil81@hotmail.com.

Acta Neurologica Belgica
|December 11, 2023
PubMed
Abstract

No abstract available in PubMed .

Keywords:
CACNA1AEncephalopathyEpilepsyGeneticNeonate

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