CLCN2-related leukoencephalopathy: a case report and review of the literature

[1] Depienne C(2013)Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study The Lancet Neurology 12 659-668

[2] Bugiani M(2007)Leukoencephalopathy upon disruption of the chloride channel ClC-2 J Neurosci 27 6581-6589

[3] Dupuits C(2017)ClC channels and transporters: structure, physiological functions, and implications in human chloride Channelopathies Front Pharmacol 8 151-1590

[4] Galanaud D(2018)CLC chloride channels and transporters: structure, function, physiology, and disease Physiol Rev 98 1493-354

[5] Touitou V(2018)CLCN2 chloride channel mutations in familial hyperaldosteronism type II Nat Genet 50 349-7008

[6] Postma N(2017)Leukoencephalopathy-causing CLCN2 mutations are associated with impaired cl(−) channel function and trafficking J Physiol 595 6993-896

[7] Blanz J(2017)A novel homozygous change ofCLCN2(p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) Journal of Neurology, Neurosurgery & Psychiatry 88 894-2450

[8] Schweizer M(2014)Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction Nat Commun 5 3475-4180

[9] Auberson M(2017)Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy Hum Mol Genet 26 2436-1218

[10] Maier H(2015)Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy J Physiol 593 4165-546

[1] Depienne C(2013)Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study The Lancet Neurology 12 659-668

[2] Bugiani M(2007)Leukoencephalopathy upon disruption of the chloride channel ClC-2 J Neurosci 27 6581-6589

[3] Dupuits C(2017)ClC channels and transporters: structure, physiological functions, and implications in human chloride Channelopathies Front Pharmacol 8 151-1590

[4] Galanaud D(2018)CLC chloride channels and transporters: structure, function, physiology, and disease Physiol Rev 98 1493-354

[5] Touitou V(2018)CLCN2 chloride channel mutations in familial hyperaldosteronism type II Nat Genet 50 349-7008

[6] Postma N(2017)Leukoencephalopathy-causing CLCN2 mutations are associated with impaired cl(−) channel function and trafficking J Physiol 595 6993-896

[7] Blanz J(2017)A novel homozygous change ofCLCN2(p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) Journal of Neurology, Neurosurgery & Psychiatry 88 894-2450

[8] Schweizer M(2014)Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction Nat Commun 5 3475-4180

[9] Auberson M(2017)Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy Hum Mol Genet 26 2436-1218

[10] Maier H(2015)Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy J Physiol 593 4165-546