A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).

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Serval ID
serval:BIB_837357123BDB
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Production externe
Title
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
Journal
Journal of neurology, neurosurgery, and psychiatry
Author(s)
Giorgio E., Vaula G., Benna P., Lo Buono N., Eandi C.M., Dino D., Mancini C., Cavalieri S., Di Gregorio E., Pozzi E., Ferrero M., Giordana M.T., Depienne C., Brusco A.
ISSN
1468-330X (Electronic)
ISSN-L
0022-3050
Publication state
Published
Issued date
10/2017
Peer-reviewed
Oui
Volume
88
Number
10
Pages
894-896
Language
english
Notes
Publication types: Case Reports ; Letter ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Keywords
Cerebellar Ataxia/complications, Cerebellar Ataxia/genetics, Chloride Channels/genetics, Female, Homozygote, Humans, Leukoencephalopathies/complications, Leukoencephalopathies/genetics, Middle Aged, CLCN2, ClC-2, LKPAT, intramyelinic edema, leukoencephalopathy
DOI
10.1136/jnnp-2016-315525
Pubmed
28473625
Web of science
000412447400017
Create date
12/03/2021 19:26
Last modification date
26/03/2021 7:35
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