Case report and ten-year follow-up of episodic ataxia type 2 due to a novel variant in CACNA1A
eNeurologicalSci
.
2021 Mar 13:23:100334.
doi: 10.1016/j.ensci.2021.100334.
eCollection 2021 Jun.
Authors
Lorenzo Verriello
1
,
Paola Carrera
2
,
Giada Pauletto
1
,
Andrea Bernardini
3
,
Mariarosaria Valente
3
4
,
Gian Luigi Gigli
3
5
Affiliations
1
Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, Udine, Italy.
2
Laboratory of Clinical and Molecular Biology and Unit of Genomics for Diagnosis of Genetic Diseases, IRCCS Ospedale San Raffaele, Milano, Italy.
3
Clinical Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, Udine, Italy.
4
Department of Medicine (DAME), University of Udine, Italy.
5
Department of Mathematics, Informatics and Physics (DMIF), University of Udine, Italy.
PMID:
33786385
PMCID:
PMC7994720
DOI:
10.1016/j.ensci.2021.100334
No abstract available