A novel homozygous change ofCLCN2(p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)-Reference-Cited by-同舟云学术

A novel homozygous change ofCLCN2(p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)

Published:2017-05-04 Issue:10 Volume:88 Page:894-896
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:J Neurol Neurosurg Psychiatry

Author:

Giorgio Elisa,Vaula Giovanna,Benna Paolo,Lo Buono Nicola,Eandi Chiara Maria,Dino Daniele,Mancini Cecilia,Cavalieri Simona,Di Gregorio Eleonora,Pozzi Elisa,Ferrero Marta,Giordana Maria Teresa,Depienne Christel,Brusco Alfredo^ORCID

Funder

Associazione E.E. Rulfo per la Genetica Medica

MURST60%

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference5 articles.

1. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study;Depienne;Lancet Neurol,2013

2. Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation;Di Bella;Neurology,2014

3. Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation;Hanagasi;Parkinsonism Relat Disord,2015

4. Leukoencephalopathy upon disruption of the chloride channel ClC-2;Blanz;J Neurosci,2007

5. Auditory-evoked far-field potentials in myelin deficient mutant quaking mice;Shah;Neuroscience,1980

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