Research & Literature

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.

De Franco E, Flanagan SE, Houghton JA, et al.

Lancet (London, England) 2015; (386(9997)):957-63.

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations.

Beltrand J, Elie C, Busiah K, et al.

Diabetes care 2015; (38(11)):2033-41 doi:10.2337/dc15-0837.

Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.

Alkorta-Aranburu G, Sukhanova M, Carmody D, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2016; (29(5)):523-31.

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.

Babiker T, Vedovato N, Patel K, et al.

Diabetologia 2016; (59(6)):1162-6 doi:10.1007/s00125-016-3921-8.

Psychiatric morbidity in children with KCNJ11 neonatal diabetes.

Bowman P, Broadbridge E, Knight BA, et al.

Diabetic medicine : a journal of the British Diabetic Association 2016; (33(10)):1387-91 doi:10.1111/dme.13135.

Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls.

Carmody D, Pastore AN, Landmeier KA, et al.

Diabetic medicine : a journal of the British Diabetic Association 2016; (33(10)):1380-6 doi:10.1111/dme.13159.

ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes.

Landmeier KA, Lanning M, Carmody D, et al.

Pediatric diabetes 2017; (18(7)):518-523 doi:10.1111/pedi.12428.

Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan.

Hashimoto Y, Dateki S, Hirose M, et al.

Pediatric diabetes 2017; (18(7)):532-539 doi:10.1111/pedi.12447.

Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation.

Ozsu E, Giri D, Seymen Karabulut G, Senniappan S

Journal of pediatric endocrinology & metabolism : JPEM 2016; (29(12)):1403-1406.

First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.

Ioacara S, Flanagan S, Fröhlich-Reiterer E, et al.

Journal of diabetes investigation 2017; (8(5)):716-719 doi:10.1111/jdi.12620.

Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes.

Day JO, Flanagan SE, Shepherd MH, et al.

Diabetic medicine : a journal of the British Diabetic Association 2017; (34(7)):1000-1004 doi:10.1111/dme.13328.

DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea.

Cho JH, Kang E, Lee BH, et al.

Journal of Korean medical science 2017; (32(6)):1042-1045 doi:10.3346/jkms.2017.32.6.1042.

Permanent Neonatal Diabetes (DEND Syndrome).

Khan SA, Parkash A, Ibrahim M

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2016; (26(11)):114-115 doi:218.

KATP Channel Mutations and Neonatal Diabetes.

Shimomura K, Maejima Y

Internal medicine (Tokyo, Japan) 2017; (56(18)):2387-2393 doi:10.2169/internalmedicine.8454-16.

Continuous glucose monitoring in neonates: a review.

McKinlay CJD, Chase JG, Dickson J, et al.

Maternal health, neonatology and perinatology 2017; (3()):18 doi:10.1186/s40748-017-0055-z.

Hypoglycemia in sulfonylurea-treated KCNJ11-neonatal diabetes: Mild-moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures.

Lanning MS, Carmody D, Szczerbiński Ł, et al.

Pediatric diabetes 2018; (19(3)):393-397 doi:10.1111/pedi.12599.

Sulfonylurea vs insulin therapy in individuals with sulfonylurea-sensitive permanent neonatal diabetes mellitus, attributable to a KCNJ11 mutation, and poor glycaemic control.

Stanik J, Dankovcikova A, Barak L, et al.

Diabetic medicine : a journal of the British Diabetic Association 2018; (35(3)):386-391 doi:10.1111/dme.13575.

Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.

Lemelman MB, Letourneau L, Greeley SAW

Clinics in perinatology 2018; (45(1)):41-59 doi:10.1016/j.clp.2017.10.006.

Chromosome 6q24-related diabetes mellitus.

Yorifuji T, Higuchi S, Hosokawa Y, Kawakita R

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2018; (27(2)):59-65 doi:10.1297/cpe.27.59.

Cryo-electron microscopy structures and progress toward a dynamic understanding of KATP channels.

Puljung MC

The Journal of general physiology 2018; (150(5)):653-669 doi:10.1085/jgp.201711978.

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.

Bowman P, Sulen Å, Barbetti F, et al.

The lancet. Diabetes & endocrinology 2018; (6(8)):637-646 doi:10.1016/S2213-8587(18)30106-2.

Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes.

Bowman P, Day J, Torrens L, et al.

Diabetes care 2019; (42(2)):215-224 doi:10.2337/dc18-1060.

Glibenclamide oral suspension: Suitable and effective in patients with neonatal diabetes.

Beltrand J, Baptiste A, Busiah K, et al.

Pediatric diabetes 2019; (20(3)):246-254 doi:10.1111/pedi.12823.

Functional characterization of activating mutations in the sulfonylurea receptor 1 (ABCC8) causing neonatal diabetes mellitus in Asian Indian children.

Balamurugan K, Kavitha B, Yang Z, et al.

Pediatric diabetes 2019; (20(4)):397-407 doi:10.1111/pedi.12843.

Structural Insights into the Inhibitory Mechanism of Insulin Secretagogues on the Pancreatic ATP-Sensitive Potassium Channel.

Wu JX, Ding D, Wang M, Chen L

Biochemistry 2020; (59(1)):18-25 doi:10.1021/acs.biochem.9b00692.

Monogenic Forms of Diabetes Mellitus.

Gaál Z, Balogh I

Experientia supplementum (2012) 2019; (111()):385-416 doi:10.1007/978-3-030-25905-1_18.

Identification of insulin gene variants in patients with neonatal diabetes in the Chinese population.

Fu J, Wang T, Li M, Xiao X

Journal of diabetes investigation 2020; (11(3)):578-584 doi:10.1111/jdi.13156.

Intellectual Disability in KATP Channel Neonatal Diabetes.

Svalastoga P, Sulen Å, Fehn JR, et al.

Diabetes care 2020; (43(3)):526-533 doi:10.2337/dc19-1013.

Recent Advances in Neonatal Diabetes.

Dahl A, Kumar S

Diabetes, metabolic syndrome and obesity : targets and therapy 2020; (13()):355-364 doi:10.2147/DMSO.S198932.

New insights into KATP channel gene mutations and neonatal diabetes mellitus.

Pipatpolkai T, Usher S, Stansfeld PJ, Ashcroft FM

Nature reviews. Endocrinology 2020; (16(7)):378-393 doi:10.1038/s41574-020-0351-y.

Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.

Garcin L, Mericq V, Fauret-Amsellem AL, et al.

Pediatric diabetes 2020; (21(6)):932-941 doi:10.1111/pedi.13041.

A novel de novo mutation at the ABCC8 gene in a newborn with transient diabetes mellitus.

Bolu S, Bucak İH, Konca Ç, et al.

Turk pediatri arsivi 2020; (55(2)):195-198 doi:10.14744/TurkPediatriArs.2019.01336.

Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age.

Lin Y, Sheng H, Ting TH, et al.

BMJ open diabetes research & care 2020; (8(1)) doi:10.1136/bmjdrc-2020-001345.

Neonatal Diabetes Mellitus.

Beltrand J, Busiah K, Vaivre-Douret L, et al.

Frontiers in pediatrics 2020; (8()):540718 doi:10.3389/fped.2020.540718.

Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.

Bowman P, Mathews F, Barbetti F, et al.

Diabetes care 2021; (44(1)):35-42 doi:10.2337/dc20-1520.

Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants.

Stanik J, Barak L, Dankovcikova A, et al.

Endocrine regulations 2020; (54(4)):260-265 doi:10.2478/enr-2020-0029.

Production and purification of ATP-sensitive potassium channel particles for cryo-electron microscopy.

Driggers CM, Shyng SL

Methods in enzymology 2021; (653()):121-150 doi:10.1016/bs.mie.2021.02.008.

Novel perspectives of super-high dose sulfonylurea and high-dose oral prednisolone in an infant with DEND syndrome due to V64M heterozygote KCNJ11 mutation.

Barash G, Bassan H, Livne A, et al.

Acta diabetologica 2021; (58(12)):1665-1672 doi:10.1007/s00592-021-01763-1.

Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes.

Dalgin G, Tryba AK, Cohen AP, et al.

Scientific reports 2021; (11(1)):21590 doi:10.1038/s41598-021-00939-7.

Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2.

McClenaghan C, Rapini N, De Rose DU, et al.

Hormone research in paediatrics 2022; (95(3)):215-223 doi:10.1159/000521858.

ATP-Sensitive Potassium Channels in Hyperinsulinism and Type 2 Diabetes: Inconvenient Paradox or New Paradigm?

Nichols CG, York NW, Remedi MS

Diabetes 2022; (71(3)):367-375 doi:10.2337/db21-0755.

The role of intermittent continuous glucose monitoring in a successful outpatient transition from insulin to glibenclamide in a patient with transient neonatal diabetes.

Lyra A, Ferreira FR, Moisés RCS, et al.

Archives of endocrinology and metabolism 2022; (66(3)):429-435.

Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta-analyses.

de Gouveia Buff Passone C, Giani E, Vaivre-Douret L, et al.

Pediatric diabetes 2022; (23(6)):675-692 doi:10.1111/pedi.13376.

Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.

Yagasaki H, Sano F, Narusawa H, et al.

American journal of medical genetics. Part A 2022; (188(8)):2466-2471 doi:10.1002/ajmg.a.62873.

Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage.

Wu B, Xu W

Frontiers in neurology 2023; (14()):1072078 doi:10.3389/fneur.2023.1072078.

ABCC8-related maturity-onset diabetes of the young: switching from insulin to sulphonylurea therapy: how long do we need for a good metabolic control?

Evin F, Işık E, Onay H, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(6)):592-597 doi:10.1515/jpem-2022-0642.

Not All Diabetic Ketoacidosis in Infant Is Type 1: A Case Report Permanent Neonatal Diabetes.

Al Homyani DK, Al Homaiani L

AACE clinical case reports 2024; (10(1)):7-9 doi:10.1016/j.aace.2023.10.004.

The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.

Rapini N, Delvecchio M, Mucciolo M, et al.

The Journal of clinical endocrinology and metabolism 2024; (109(9)):2349-2357 doi:10.1210/clinem/dgae095.

Structure of an open KATP channel reveals tandem PIP2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.

Driggers CM, Kuo YY, Zhu P, et al.

Nature communications 2024; (15(1)):2502 doi:10.1038/s41467-024-46751-5.

KATP channel mutation disrupts hippocampal network activity and nocturnal gamma shifts.

Burkart ME, Kurzke J, Jacobi R, et al.

Brain : a journal of neurology 2024; (147(12)):4200-4212 doi:10.1093/brain/awae157.

Use of a long-term continuous glucose monitor for predicting sulfonylurea dose in patients with neonatal diabetes mellitus: a case series.

Tagawa K, Matsui K, Tsukamura A, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2024; (33(3)):131-138 doi:10.1297/cpe.2023-0062.

Precision therapy for Developmental delay, Epilepsy and Neonatal Diabetes syndrome in the era of genomics.

Badal S, Sondhi V, Sannalli K, et al.

Medical journal, Armed Forces India 2024; (80(Suppl 1)):S337-S340 doi:10.1016/j.mjafi.2024.01.007.

Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes.

McCullough ME, Letourneau-Freiberg LR, Bowden TL, et al.

Pediatric diabetes 2024; (2024()):3624339 doi:10.1155/pedi/3624339.

Safety and Effectiveness of Oral Glyburide Suspension in Neonatal Diabetes Mellitus: French Retrospective Cohort Study.

Ben Rhaiem I, Beltrand J, Vermillac G, et al.

Journal of the Endocrine Society 2025; (9(7)):bvaf083 doi:10.1210/jendso/bvaf083.

Kir6.2 channel activity is regulated by interaction of transmembrane domains 1 and 2 through I167 in the bundle-crossing gate.

Kawashima R, Meller C, Suzuki M, et al.

Physiological reports 2025; (13(15)):e70481 doi:10.14814/phy2.70481.

De Novo KCNJ11 Mutation in an Infant With Neonatal Diabetes Mellitus Presenting as Diabetic Ketoacidosis: A Case Report and Literature Review.

Mujahed RH, Shawabka AM, Daghlis NM, et al.

Journal of investigative medicine high impact case reports 2025; (13()):23247096251368092 doi:10.1177/23247096251368092.

Long-Term Seizure and Neurodevelopmental Outcomes of Three Children with Developmental Delay, Epilepsy, and Neonatal Diabetes (DEND) Syndrome after Early Initiation of Sulphonylurea.

Baby N, Vinayan KP, Pavithran P, et al.

Annals of Indian Academy of Neurology 2025; (28(5)):725-728 doi:10.4103/aian.aian_1097_24.

Case Report: When genetic diagnosis comes late: lessons from a DEND syndrome patient successfully transitioned to sulfonylurea.

Abreu GM, Bastos de Souza R, Bernardo MC, et al.

Frontiers in clinical diabetes and healthcare 2025; (6()):1654037 doi:10.3389/fcdhc.2025.1654037.

Monogenic Neonatal Diabetes: Clinical Presentations, Genetic Findings, and Response to Therapy in a Retrospective Case Series.

Yakine F, Bouarab I, Alaoui-Inboui FZ, et al.

Cureus 2026; (18(1)):e102578 doi:10.7759/cureus.102578.

Prehospital identification of hypoglycemia-induced seizure using a smartphone-linked continuous glucose monitoring application.

Harada K, Okazaki Y, Ichiba T

The American journal of emergency medicine 2026; (107()):13-15 doi:10.1016/j.ajem.2026.05.021.