Soft cerebellar signs unveil RARS2-related epilepsy

Epileptic Disord. 2024 Aug;26(4):540-543. doi: 10.1002/epd2.20237. Epub 2024 May 11.

Authors

Affiliations

¹ Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
² Neurophysiopathology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
³ Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
⁴ Neuroradiology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

PMID: 38733322
DOI: 10.1002/epd2.20237

No abstract available

Keywords: RARS2; ataxia; cerebellum; epilepsy; intellectual disability.

Publication types

Case Reports

MeSH terms

Cerebellum / diagnostic imaging
Cerebellum / pathology
Electroencephalography
Epilepsy* / diagnosis
Epilepsy* / physiopathology
Female
Humans
Male

Grants and funding

This study was supported by the Italian Ministry of Health (Ricerca Corrente).