Case report and ten-year follow-up of episodic ataxia type 2 due to a novel variant in CACNA1A

• Lorenzo Verriello,
• Paola Carrera,
• Giada Pauletto,
• Andrea Bernardini,
• Mariarosaria Valente,
• Gian Luigi Gigli

Affiliations

Lorenzo Verriello

Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, Udine, Italy; Corresponding author.

Paola Carrera

Laboratory of Clinical and Molecular Biology and Unit of Genomics for Diagnosis of Genetic Diseases, IRCCS Ospedale San Raffaele, Milano, Italy

Giada Pauletto

Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, Udine, Italy

Andrea Bernardini

Clinical Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, Udine, Italy

Mariarosaria Valente

Clinical Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, Udine, Italy; Department of Medicine (DAME), University of Udine, Italy

Gian Luigi Gigli

Clinical Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, Udine, Italy; Department of Mathematics, Informatics and Physics (DMIF), University of Udine, Italy