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

Elisa GiorgioGiovanna VaulaPaolo BennaNicola Lo BuonoChiara Maria EandiDaniele DinoCecilia ManciniSimona CavalieriEleonora Di GregorioElisa PozziMarta FerreroMaria Teresa GiordanaChristel DepienneAlfredo Brusco

Published in: Journal of neurology, neurosurgery, and psychiatry (2017)

Keyphrases

anti inflammatory
early onset