A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy

[1] Gitelman HJ(1966)A new familial disorder characterized by hypokalemia and hypomagnesemia Trans Assoc Am Phys 79 221-235

[2] Graham JB(2017)Gitelman syndrome: consensus and guidance from a kidney disease: improving global outcomes (KDIGO) controversies conference Kidney Int 91 24-33

[3] Welt LG(2019)Gitelman syndrome: a rare cause of seizure disorder and a systematic review Case Rep Med 2019 4204907-270

[4] Blanchard A(2014)Gitelman syndrome in a school boy who presented with generalized convulsion and had a R642H/R642W mutation in the SLC12A3 gene Case Rep Pediatr 2014 279389-703

[5] Bockenhauer D(2011)Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome Eur J Hum Genet 20 263-424

[6] Bolignano D(2011)Spectrum of mutations in Gitelman syndrome J Am Soc Nephrol 22 693-5952

[7] Calo LA(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-299

[8] Cosyns E(2008)Gitelman syndrome Orphanet J Rare Dis 3 22-168

[9] Devuyst O(2019)Genetic analysis of SLC12A3 gene in Chinese patients with Gitelman syndrome Medical science monitor: international medical journal of experimental and clinical research 25 5942-121

[10] Shahzad MA(2017)Mutation profile and treatment of Gitelman syndrome in Chinese patients Clin Exp Nephrol 21 293-1135

[1] Gitelman HJ(1966)A new familial disorder characterized by hypokalemia and hypomagnesemia Trans Assoc Am Phys 79 221-235

[2] Graham JB(2017)Gitelman syndrome: consensus and guidance from a kidney disease: improving global outcomes (KDIGO) controversies conference Kidney Int 91 24-33

[3] Welt LG(2019)Gitelman syndrome: a rare cause of seizure disorder and a systematic review Case Rep Med 2019 4204907-270

[4] Blanchard A(2014)Gitelman syndrome in a school boy who presented with generalized convulsion and had a R642H/R642W mutation in the SLC12A3 gene Case Rep Pediatr 2014 279389-703

[5] Bockenhauer D(2011)Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome Eur J Hum Genet 20 263-424

[6] Bolignano D(2011)Spectrum of mutations in Gitelman syndrome J Am Soc Nephrol 22 693-5952

[7] Calo LA(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-299

[8] Cosyns E(2008)Gitelman syndrome Orphanet J Rare Dis 3 22-168

[9] Devuyst O(2019)Genetic analysis of SLC12A3 gene in Chinese patients with Gitelman syndrome Medical science monitor: international medical journal of experimental and clinical research 25 5942-121

[10] Shahzad MA(2017)Mutation profile and treatment of Gitelman syndrome in Chinese patients Clin Exp Nephrol 21 293-1135