A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
Détails
ID Serval
serval:BIB_837357123BDB
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
Périodique
Journal of neurology, neurosurgery, and psychiatry
ISSN
1468-330X (Electronic)
ISSN-L
0022-3050
Statut éditorial
Publié
Date de publication
10/2017
Peer-reviewed
Oui
Volume
88
Numéro
10
Pages
894-896
Langue
anglais
Notes
Publication types: Case Reports ; Letter ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Mots-clé
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
Pubmed
Web of science
Création de la notice
12/03/2021 19:26
Dernière modification de la notice
26/03/2021 7:35