Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. (2023)

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.gim.2022.09.013

PubMed Identifier: 36331550

Publication URI: http://europepmc.org/abstract/MED/36331550

Type: Journal Article/Review

Volume: 25

Parent Publication: Genetics in medicine : official journal of the American College of Medical Genetics

Issue: 1

ISSN: 1098-3600