European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study.
Micaela Chinigioli, Laura Martí-Sanchez, Delia Yubero, Clara Xiol, Jonathan Olival, Adrián Alcalá San Martín, Cristina Hernando-Davalillo, Loreto Martorell, Judith Armstrong, Ángeles Schteinschnaider, Juan Darío Ortigoza-Escobar
Published: 202510.1016/j.ejpn.2025.11.005
Abstract
BACKGROUND: Episodic neurologic disorders, such as paroxysmal torticollis, paroxysmal tonic upward gaze deviation, migraine, and episodic ataxia, represent a diagnostic challenge in paediatric patients. Variants in the CACNA1A and other genes such SC…
Preview only. Read the full abstract at the source