Research & Literature

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.

D'Adamo MC, Gallenmüller C, Servettini I, et al.

Frontiers in physiology 2014; (5()):525 doi:10.3389/fphys.2014.00525.

Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations.

Al Shibli A, Narchi H

World journal of methodology 2015; (5(2)):55-61 doi:10.5662/wjm.v5.i2.55.

Hypomagnesemia due to two novel TRPM6 mutations.

Coulter M, Colvin C, Korf B, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2015; (28(11-12)):1373-8.

QT interval prolongation associated with low magnesium in chronic alcoholics.

Moulin SR, Mill JG, Rosa WC, et al.

Drug and alcohol dependence 2015; (155()):195-201.

New insights into the pathogenesis and therapeutics of episodic ataxia type 1.

D'Adamo MC, Hasan S, Guglielmi L, et al.

Frontiers in cellular neuroscience 2015; (9()):317 doi:10.3389/fncel.2015.00317.

Primary renal magnesium wasting: an unusual clinical picture of exercise-induced symptoms.

Stark CM, Nylund CM, Gorman GH, Lechner BL

Physiological reports 2016; (4(8)).

A case of chronic hypomagnesemia in a cancer survivor.

Velimirovic M, Ziperstein JC, Fenves AZ

Hospital practice (1995) 2017; (45(2)):58-64 doi:10.1080/21548331.2017.1286924.

Lessons learned from a multidisciplinary renal genetics clinic.

Alkanderi S, Yates LM, Johnson SA, Sayer JA

QJM : monthly journal of the Association of Physicians 2017; (110(7)):453-457 doi:10.1093/qjmed/hcx030.

Seizures Related to Hypomagnesemia: A Case Series and Review of the Literature.

Chen BB, Prasad C, Kobrzynski M, et al.

Child neurology open 2016; (3()):2329048X16674834 doi:10.1177/2329048X16674834.

[Expert consensus for the diagnosis and treatment of patients with Gitelman syndrome].

Zhonghua nei ke za zhi 2017; (56(9)):712-716 doi:10.3760/cma.j.issn.0578-1426.2017.09.021.

Intestinal Absorption and Factors Influencing Bioavailability of Magnesium-An Update.

Schuchardt JP, Hahn A

Current nutrition and food science 2017; (13(4)):260-278 doi:10.2174/1573401313666170427162740.

Pharmacokinetics of Magnesium Bolus Therapy in Cardiothoracic Surgery.

Biesenbach P, Mårtensson J, Lucchetta L, et al.

Journal of cardiothoracic and vascular anesthesia 2018; (32(3)):1289-1294 doi:10.1053/j.jvca.2017.08.049.

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Ashton EJ, Legrand A, Benoit V, et al.

Kidney international 2018; (93(4)):961-967 doi:10.1016/j.kint.2017.10.016.

De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.

Stiles CE, Thuraisingham R, Bockenhauer D, et al.

Endocrinology, diabetes & metabolism case reports 2018; (2018()).

A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.

van der Wijst J, Konrad M, Verkaart SAJ, et al.

Nephron 2018; (139(4)):359-366 doi:10.1159/000488954.

Hypomagnesemia and hypermagnesemia.

Van Laecke S

Acta clinica Belgica 2019; (74(1)):41-47 doi:10.1080/17843286.2018.1516173.

[Management of Gitelman syndrome during pregnancy reporting 12 cases].

Elbouajaji K, Blanchier D, Pourrat O, Sarreau M

Nephrologie & therapeutique 2018; (14(7)):536-543 doi:10.1016/j.nephro.2018.06.003.

Electrolytes disturbances after kidney transplantation.

De Waele L, Van Gaal PJ, Abramowicz D

Acta clinica Belgica 2019; (74(1)):48-52 doi:10.1080/17843286.2018.1549193.

Intravenous infusion of magnesium sulfate is not associated with cardiovascular, liver, kidney, and metabolic toxicity in adults.

Karhu E, Atlas SE, Gao J, et al.

Journal of clinical and translational research 2018; (4(1)):47-55.

The challenges of diagnosis and management of Gitelman syndrome.

Urwin S, Willows J, Sayer JA

Clinical endocrinology 2020; (92(1)):3-10 doi:10.1111/cen.14104.

Transition of patients with mucopolysaccharidosis from paediatric to adult care.

Lampe C, McNelly B, Gevorkian AK, et al.

Molecular genetics and metabolism reports 2019; (21()):100508 doi:10.1016/j.ymgmr.2019.100508.

Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

Yücel H, Genç Sel Ç, Kasapkara ÇS, et al.

Journal of clinical research in pediatric endocrinology 2021; (13(1)):114-118 doi:10.4274/jcrpe.galenos.2020.2020.0004.

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.

Paulhus K, Ammerman L, Glasscock E

International journal of molecular sciences 2020; (21(8)) doi:10.3390/ijms21082802.

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.

D'Adamo MC, Liantonio A, Rolland JF, et al.

International journal of molecular sciences 2020; (21(8)) doi:10.3390/ijms21082935.

Hypomagnesemia is underestimated in children with HNF1B mutations.

Kołbuc M, Leßmeier L, Salamon-Słowińska D, et al.

Pediatric nephrology (Berlin, Germany) 2020; (35(10)):1877-1886 doi:10.1007/s00467-020-04576-6.

Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.

Bianchi F, Simoncini C, Brugnoni R, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2020; (39(1)):36-39 doi:10.36185/2532-1900-007.

Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.

Yuan H, Yuan H, Wang Q, et al.

Molecular genetics & genomic medicine 2020; (8(10)):e1434 doi:10.1002/mgg3.1434.

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.

Imbrici P, Accogli A, Blunck R, et al.

Biomedicines 2021; (9(1)) doi:10.3390/biomedicines9010075.

The ECG Characteristics of Patients With Isolated Hypomagnesemia.

Yang Y, Chen C, Duan P, et al.

Frontiers in physiology 2020; (11()):617374 doi:10.3389/fphys.2020.617374.

Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey.

Stepien KM, Kieć-Wilk B, Lampe C, et al.

Frontiers in medicine 2021; (8()):652358 doi:10.3389/fmed.2021.652358.

Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.

Trepiccione F, Walsh SB, Ariceta G, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2021; (36(9)):1585-1596 doi:10.1093/ndt/gfab171.

Molecular Mechanisms of Renal Magnesium Reabsorption.

Ellison DH, Maeoka Y, McCormick JA

Journal of the American Society of Nephrology : JASN 2021; (32(9)):2125-2136 doi:10.1681/ASN.2021010042.

The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders.

Papadopoulou A, Bountouvi E, Karachaliou FE

Genes 2021; (12(5)) doi:10.3390/genes12050734.

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.

Jung J, Lee JH, Park YS, et al.

BMC medical genomics 2021; (14(1)):177 doi:10.1186/s12920-021-01026-6.

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Saleh S, Beyyumi E, Al Kaabi A, et al.

Clinical genetics 2021; (100(5)):573-600 doi:10.1111/cge.14044.

Diagnostic Dilemma in an Adolescent Girl with an Eating Disorder, Intellectual Disability, and Hypomagnesemia.

Bamhraz AA, Franken GAC, de Baaij JHF, et al.

Nephron 2021; (145(6)):717-720 doi:10.1159/000518173.

Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature.

Lauxmann S, Sonnenberg L, Koch NA, et al.

Frontiers in neurology 2021; (12()):703970 doi:10.3389/fneur.2021.703970.

mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.

Schlingmann KP, Jouret F, Shen K, et al.

Journal of the American Society of Nephrology : JASN 2021; (32(11)):2885-2899 doi:10.1681/ASN.2021030333.

Clinical and genetic approach to renal hypomagnesemia.

Tseng MH, Konrad M, Ding JJ, Lin SH

Biomedical journal 2022; (45(1)):74-87 doi:10.1016/j.bj.2021.11.002.

SUDEP risk and autonomic dysfunction in genetic epilepsies.

Sahly AN, Shevell M, Sadleir LG, Myers KA

Autonomic neuroscience : basic & clinical 2022; (237()):102907 doi:10.1016/j.autneu.2021.102907.

Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants.

Miceli F, Guerrini R, Nappi M, et al.

Epilepsia 2022; (63(1)):e7-e14 doi:10.1111/epi.17118.

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience.

Kölker S, Gleich F, Mütze U, Opladen T

Frontiers in endocrinology 2022; (13()):832063 doi:10.3389/fendo.2022.832063.

Episodic Ataxia Type 1: Natural History and Effect on Quality of Life.

Graves TD, Griggs RC, Bundy BN, et al.

Cerebellum (London, England) 2023; (22(4)):578-586 doi:10.1007/s12311-021-01360-6.

Hypomagnesemia, Hypocalcemia, and Tubulointerstitial Nephropathy Caused by Claudin-16 Autoantibodies.

Figueres L, Bruneau S, Prot-Bertoye C, et al.

Journal of the American Society of Nephrology : JASN 2022; (33(7)):1402-1410 doi:10.1681/ASN.2022010060.

Outcome of primary tubular tubulopathies diagnosed in pediatric age.

Gómez CJB, Gil-Peña H, Álvarez FAO, Rodríguez FS

Nefrologia 2021; (41(2)):182-190 doi:10.1016/j.nefroe.2020.07.001.

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.

Groothoff JW, Metry E, Deesker L, et al.

Nature reviews. Nephrology 2023; (19(3)):194-211 doi:10.1038/s41581-022-00661-1.

Fibroblast growth factor 23 is independently associated with renal magnesium handling in patients with chronic kidney disease.

Grigore TV, Zuidscherwoude M, Witasp A, et al.

Frontiers in endocrinology 2022; (13()):1046392 doi:10.3389/fendo.2022.1046392.

Acquired Disorders of Hypomagnesemia.

Rosner MH, Ha N, Palmer BF, Perazella MA

Mayo Clinic proceedings 2023; (98(4)):581-596 doi:10.1016/j.mayocp.2022.12.002.

Movement Disorders and Other Neurologic Impairment Associated With Hypomagnesemia: A Systematic Review.

Ray S, Park KW

Neurology. Clinical practice 2023; (13(6)):e200202 doi:10.1212/CPJ.0000000000200202.

Oral magnesium supplementation does not affect insulin sensitivity in people with insulin-treated type 2 diabetes and a low serum magnesium: a randomised controlled trial.

Drenthen LCA, de Baaij JHF, Rodwell L, et al.

Diabetologia 2024; (67(1)):52-61 doi:10.1007/s00125-023-06029-9.

Long-Term Indomethacin Treatment in a Chinese Child with Gitelman Syndrome: Case Report and Literature Review on its Efficacy and Tolerance.

Peng X, Chen C, Tu J, et al.

The American journal of case reports 2023; (24()):e941627 doi:10.12659/AJCR.941627.

Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.

Thapa R, Roy A, Nayek K, Basu A

Calcified tissue international 2024; (114(2)):110-118 doi:10.1007/s00223-023-01142-8.

Diagnostic delay in monogenic disease: A scoping review.

Tinker RJ, Fisher M, Gimeno AF, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2024; (26(4)):101074 doi:10.1016/j.gim.2024.101074.

Utility of fractional excretion of magnesium in diagnosing renal magnesium wasting in pediatric nephrology practice.

Awazu M, Matsumura K

Clinical biochemistry 2024; (131-132()):110807 doi:10.1016/j.clinbiochem.2024.110807.

Proton pump inhibitor-induced hypomagnesemia, a rare cause of reversible delirium: A case report with literature review.

Zhao W, Zhang J, Jia H, et al.

Medicine 2024; (103(40)):e39729 doi:10.1097/MD.0000000000039729.

Dent disease: clinical practice recommendations.

Bökenkamp A, Ariceta G, Böckenhauer D, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2025; (40(5)):852-864 doi:10.1093/ndt/gfaf003.

Diagnosis and Treatment of Hypophosphatasia.

Seefried L, Genest F, Hofmann C, et al.

Calcified tissue international 2025; (116(1)):46 doi:10.1007/s00223-025-01356-y.

Reversible Bilateral Lower Extremity Weakness Secondary to Severe Hypomagnesemia Following Acute Diarrheal Illness.

Molina M, Mejia Landron R, Kaddour-Hocine F, et al.

Cureus 2025; (17(3)):e81077 doi:10.7759/cureus.81077.

Dysmagnesemia in critically ill diarrheal patients in Bangladesh.

Alam A, Mamun GMS, Sarmin M, et al.

PloS one 2025; (20(5)):e0323467 doi:10.1371/journal.pone.0323467.

How to Suspect and Approach Patients With Genetic Tubular Disease.

Karet Frankl FE

Seminars in nephrology 2025; (45(4)):151654 doi:10.1016/j.semnephrol.2025.151654.

Novel CNNM2 variant causing hypomagnesemia and early-onset calcium pyrophosphate deposition disease: A case report.

Robert C, Perrot L, Zelus A, et al.

Joint bone spine 2026; (93(1)):105982 doi:10.1016/j.jbspin.2025.105982.

Profound Hypomagnesemia Due to Proton Pump Inhibitor Use-Associated Wernicke's Encephalopathy: A Case Report on Excitotoxicity.

Delforge B, Volon B, Laurent Y, Steinier C

Cureus 2025; (17(10)):e94687 doi:10.7759/cureus.94687.

Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome.

Wieërs MLAJ, Allard L, D'Ambrosio V, et al.

Kidney international reports 2025; (10(11)):3967-3983 doi:10.1016/j.ekir.2025.09.006.

Vonoprazan-associated hypomagnesemia presenting to the emergency department with altered mental status and a suspected seizure.

Okamoto N, Onishi S, Manabe T, et al.

The American journal of emergency medicine 2026; (101()):131-134 doi:10.1016/j.ajem.2025.12.034.

Multiple dyselectrolytemia in a patient with alcohol use disorder (AUD).

Abe E, Kawai Y, Sato M, et al.

CEN case reports 2026; (15(2)):53 doi:10.1007/s13730-025-01054-6.

Clinical characteristics and genetic analyses of Korean children with Dent disease.

Yang EM, Ahn YH, Kim JH, et al.

Pediatric nephrology (Berlin, Germany) 2026; (41(9)):3081-3091 doi:10.1007/s00467-026-07291-w.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis treated with living-donor kidney transplantation: case report.

Kaba A, Kaku K, Shingaki K, et al.

CEN case reports 2026; (15(3)).

Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians.

Vecino-Pérez M, García-Murias M, Carrera N, et al.

International journal of molecular sciences 2026; (27(9)) doi:10.3390/ijms27093940.

Gitelman Syndrome in a Child Presenting With Polyuria and Polydipsia: Diagnostic Challenges in a Resource-Limited Setting.

Ernest E, Simbila D

Case reports in nephrology 2026; (2026()):8879176 doi:10.1155/crin/8879176.

Atrial Flutter-Triggered Ventricular Tachycardia Storm in Gitelman Syndrome: A Case Report.

Elganainy M, Hammami AS, Peltz J, Oriaifo OF

Cureus 2026; (18(6)):e110146 doi:10.7759/cureus.110146.

Home Parenteral Support in Severe Gitelman Syndrome: A Case Report.

Martin G, Fahal I, Mehta S

Clinical case reports 2026; (14(7)):e73210 doi:10.1002/ccr3.73210.

Renal TRPM6 but not Kv1.1 is required for magnesium homeostasis in mice.

Thaitongsuk P, Girardi ACC, Morrow A, et al.

American journal of physiology. Renal physiology 2026; (331(3)):F398-F410 doi:10.1152/ajprenal.00137.2026.

Familial hypomagnesemia with secondary hypocalcemia: a novel TRPM6 mutation associated with treatment-resistant migraine in a North African family.

Paola PM, Gianni C, Emanuele M, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2026; (47(10)).

Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis: A Case Report of Compound Heterozygous Variants in the CLDN16 Gene Inherited From Symptomatic Heterozygous Carriers.

Ceol M, Sgrò E, Anglani F, et al.

Case reports in nephrology and dialysis 2026; (16(1)):162-170 doi:10.1159/cnd/abxag006.