Publications

Top 5 publications

Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer, J, Hattersley AT. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med. 2007 Apr;4(4):e118. 151 citations

Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel  subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat. 2009;30(2):170-80  107 citations

Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol. 2013 15;168(4):557-64. 54 citations

Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O’Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S. Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation. Am J Hum Genet. 2013 10;92(1):131-6  32 citations

Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S.  An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes. 2008; 57(1):259-63 31 citations

 

All publications

K-ATP Channel Genes – ABCC8 and KCNJ11

Galcheva S, Iotova V, Ellard S, Flanagan SE, Halvadzhiyan I, Petrova C,
Hussain K. Clinical presentation and treatment response to diazoxide in two
siblings with congenital hyperinsulinism as a result of a novel compound
heterozygous ABCC8 missense mutation. J Pediatr Endocrinol Metab. 2017 Mar 22.
[Epub ahead of print] PubMed PMID: 28328534.

Salomon-Estebanez M, Flanagan SE, Ellard S, Rigby L, Bowden L, Mohamed Z,
Nicholson J, Skae M, Hall C, Craigie R, Padidela R, Murphy N, Randell T, Cosgrove
KE, Dunne MJ, Banerjee I. Conservatively treated Congenital Hyperinsulinism (CHI)
due to K-ATP channel gene mutations: reducing severity over time. Orphanet J Rare
Dis. 2016 Dec 1;11(1):163. PubMed PMID: 27908292.

Ünal S, Gönülal D, Uçaktürk A, Siyah Bilgin B, Flanagan SE, Gürbüz F, Tayfun M, Elmaoğulları S, Araslı A, Demirel F, Ellard S, Hussain K. A Novel Homozygous Mutation in the KCNJ11 Gene p.F315I of a Neonate with Congenital Hyperinsulinism and Successful Management by Sirolimus. J Clin Res Pediatr Endocrinol. 2016 May 16. doi: 10.4274/jcrpe.2773. [Epub ahead of print] PubMed PMID: 27181099.

Kocaay P, Şiklar Z, Ellard S, Yagmurlu A, Çamtosun E, Erden E, Berberoglu M, Flanagan SE. Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. Horm Res Paediatr. 2016;85(6):421-5. doi: 10.1159/000446153. Epub 2016 May 14.

Harel S, Cohen AS, Hussain K, Flanagan SE, Schlade-Bartusiak K, Patel M, Courtade J, Li JB, Van Karnebeek C, Kurata H, Ellard S, Chanoine JP, Gibson WT. Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. J Pediatr Endocrinol Metab. 2015 Mar;28(3-4):345-51. doi: 10.1515/jpem-2014-0265. PubMed PMID: 25720052.

Arya VB, Guemes M, Nessa A, Alam S, Shah P, Gilbert C, Senniappan S, Flanagan SE, Ellard S, Hussain K. Clinical and Histological Heterogeneity of Congenital Hyperinsulinism due to Paternally Inherited Heterozygous ABCC8/KCNJ11 Mutations. Eur J Endocrinol. 2014 Sep 8. pii: EJE-14-0353. [Epub ahead of print]

Ince DA, Sahin NM, Ecevit A, Kurt A, Kinik ST, Flanagan SE, Hussain K, Tarcan A. Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene. J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1253-5. doi: 10.1515/jpem-2014-0072. PubMed PMID: 24945427.

Arya VB, Senniappan S, Demirbilek H, Alam S, Flanagan SE, Ellard S, Hussain K. Pancreatic Endocrine and Exocrine Function in Children following Near-Total Pancreatectomy for Diffuse Congenital Hyperinsulinism. PLoS One. 2014 19;9(5):e98054.

Khoriati D, Arya VB, Flanagan SE, Ellard S, Hussain K. Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation. BMJ Case Rep. 2013 5;2013

Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O’Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S. Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation. Am J Hum Genet. 2013 10;92(1):131-6

Chandran S, Peng FY, Rajadurai VS, Lu YT, Chang KT, Flanagan SE, Ellard S, Hussain K. Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. Endocrinol Diabetes Metab Case Rep. 2013:130041.

Calton EA, Temple IK, Mackay DJ, Lever M, Ellard S, Flanagan SE, Davies JH, Hussain K, Gray JC. Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. Eur J Med Genet. 2013 56(2):114-7

Ismail D, Kapoor RR, Smith VV, Ashworth M, Blankenstein O, Pierro A, Flanagan SE, Ellard S, Hussain K. The Heterogeneity of Focal Forms of Congenital Hyperinsulinism. J Clin Endocrinol Metab. 2012 Jan;97(1):E94-9

Flanagan S, Damhuis A, Banerjee I, Rokicki D, Jefferies C, Kapoor R, Hussain K, Ellard S. Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. Pediatr Diabetes. 2012  13(3):285-9.

Kapoor RR, Flanagan SE, Ellard S, Hussain K. Congenital hyperinsulinism: Marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene. Clin Endocrinol (Oxf). 2012 76(2):312-3

Oçal G, Flanagan SE, Hacihamdioğlu B, Berberoğlu M, Siklar Z, Ellard S, Erdeve SS, Okulu E, Akin IM, Atasay B, Arsan S, Yağmurlu A. Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potassium channel in the pancreatic beta cell. J Pediatr Endocrinol Metab. 2011;24(11-12):1019-23.

Thakur S, Flanagan SE, Ellard S, Verma IC. Congenital Hyperinsulinism Caused by Mutations in ABCC8 (SUR1) Gene. Indian Pediatr. 2011 8;48(9):733-4.

Kapoor RR, Flanagan SE, James CT, McKiernan J, Thomas AM, Harmer SC, Shield JP, Tinker A, Ellard S, Hussain K. Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations. Diabetologia. 2011 54(10):2575-83.

Männikkö R, Flanagan SE, Sim X, Segal D, Hussain K, Ellard S, Hattersley AT, Ashcroft FM. Mutations of the Same Conserved Glutamate Residue in NBD2 of the Sulfonylurea Receptor 1 Subunit of the KATP Channel Can Result in Either Hyperinsulinism or Neonatal Diabetes. Diabetes. 2011 60(6):1813-22.

Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW. Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. Eur J Endocrinol. 2011 164(6):919-926.

Powell PD, Bellanné-Chantelot C, Flanagan SE, Ellard S, Rooman R, Hussain K, Skae M, Clayton P, de Lonlay P, Dunne MJ, Cosgrove KE. In Vitro Recovery of ATP-Sensitive Potassium Channels in B Cells From Patients With Congenital Hyperinsulinism of Infancy. Diabetes. 2011 60(4):1223-8.

Banerjee I, Skae M, Flanagan SE, Rigby L, Patel L, Didi M, Blair J, Ehtisham S, Ellard S, Cosgrove KE, Dunne MJ, Clayton P. The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with Congenital Hyperinsulinism (CHI). Eur J Endocrinol. 2011 164(5):733-740.

Ismail D, Smith VV, de Lonlay P, Ribeiro MJ, Rahier J, Blankenstein O, Flanagan SE, Bellanné-Chantelot C, Verkarre V, Aigrain Y, Pierro A, Ellard S, Hussain K. Familial Focal Congenital Hyperinsulinism. JCEM. 2011 96(1):24-8.

Padidela R, Kapoor RR, Moyo Y, Gilbert C, Flanagan SE, Ellard S, Hussain K; Medscape. Focal congenital hyperinsulinism in a patient with septo-optic dysplasia. Nat Rev Endocrinol. 2010 6(11):646-50.

Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S. Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. Clin Genet. 2011 79(6):582-7

Kumaran A, Kapoor RR, Flanagan SE, Ellard S, Hussain K. Congenital Hyperinsulinism due to a Compound Heterozygous ABCC8 Mutation with Spontaneous Resolution at Eight Weeks. Horm Res Paediatr. 2010;73(4):287-292.

Shimomura K, Flanagan SE, Zadek B, Lethby M, Zubcevic L, Girard CAJ, Petz O, Mannikko R, Kapoor RR, Hussain K, Skae M, Clayton P, Hattersely A, Ellard S and Ashcroft FM. Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism. EMBO Mol Med. 2009 1:166-177

Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat. 2009;30(2):170-80

Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S.  An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes. 2008; 57(1):259-63

Hydroxyacyl-coenzyme A dehydrogenase – HADH

Satapathy AK, Jain V, Ellard S, Flanagan SE. Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings. Indian Pediatr. 2016 Oct 8;53(10):912-913. PubMed PMID: 27771675.

Çamtosun E, Flanagan SE, Ellard S, Şıklar Z, Hussain K, Kocaay P, Berberoğlu M. A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. J Clin Res Pediatr Endocrinol. 2015 Jun 5;7(2):144-7. doi: 10.4274/jcrpe.1963. PubMed PMID: 26316438.

Babiker O, Flanagan SE, Ellard S, Girim HA, Hussain K, Senniappan S. Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family. J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):1073-7. doi: 10.1515/jpem-2015-0033. PubMed PMID: 25915078.

Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O’Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S. Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation. Am J Hum Genet. 2013 10;92(1):131-6

Heslegrave AJ, Kapoor RR, Eaton S, Chadefaux B, Ackay T, Simsek E, Flanagan SE, Ellard S, Hussain K. Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.Orphanet J Rare Dis. 2012 14;7(1):25.

Flanagan SE, Patch AM, Locke JM, Akcay T, Simsek E, Alaei M, Yekta Z, Desai M, Kapoor RR, Hussain K, Ellard S. Genome-Wide Homozygosity Analysis Reveals HADH Mutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees. J Clin Endocrinol Metab. 2011 96(3):E498-502.

Kapoor RR, James C, Flanagan SE, Ellard S, Eaton S, Hussain K. 3-HydroxyacylCoenzyme A Dehydrogenase Deficiency and Hyperinsulinaemic Hypoglycaemia: Characterization of a Novel Mutation and Severe Dietary Protein Sensitivity. JCEM 2009 94(7):2221-5.

Glutamate Dehydrogenase – GLUD1

Balasubramaniam S, Kapoor R, Yeow JH, Lim PG, Flanagan S, Ellard S, Hussain K. Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome. J Pediatr Endocrinol Metab. 2011;24(7-8):573-7.

Kapoor RR, Flanagan SE, Fulton P, Chakrapani A, Chadefaux B, Ben-Omran T, Banerjee I, Shield JP, Ellard S, Hussain K. Hyperinsulinism-hyperammonaemia  (HI/HA) syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. Eur J Endocrinol. 2009;161(5):731-735.

Hepatocyte Nuclear Factor 4 – HNF4A

Arya VB, Rahman S, Senniappan S, Flanagan SE, Ellard S, Hussain K. HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response. Diabet Med. 2014 31(3):e11-5

McGlacken-Byrne SM, Hawkes CP, Flanagan SE, Ellard S, McDonnell CM, Murphy NP. The evolving course of HNF4A hyperinsulinaemic hypoglycaemia-a case series. Diabet Med. 2014 31(1):e1-5

Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat. 2013 34(5):669-85.

Flanagan SE, Kapoor RR, Mali G, Cody D, Murphy N, Schwahn B, Siahanidou T, Banerjee I, Akcay T, Rubio-Cabezas O, Shield JP, Hussain K, Ellard S. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol. 2010; 162(5):987-92.

Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer, J, Hattersley AT. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med. 2007 Apr;4(4):e118. PubMed PMID: 17407387; PubMed Central PMCID: PMC1845156.

AKT2

Arya VB, Flanagan SE, Schober E, Rami-Merhar B, Ellard S, Hussain K. Activating AKT2 mutation: Hypoinsulinaemic hypoketotic hypoglycaemia. J Clin Endocrinol Metab. 2013 99(2):391-4

Phosphomannomutase 2 – PMM2

Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen
H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E,
Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N,
Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W,
Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman
SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DH, Weedon MN, Wilson P,
Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D. Polycystic Kidney
Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in
Phosphomannomutase 2. J Am Soc Nephrol. 2017 Apr 3. pii: ASN.2016121312. doi:
10.1681/ASN.2016121312. [Epub ahead of print] PubMed PMID: 28373276

Chromosome 6q24 Methylation

Kalaivanan P, Arya VB, Shah P, Datta V, Flanagan SE, Mackay DJ, Ellard S, Senniappan S, Hussain K. Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia. J Pediatr Endocrinol Metab. 2014 May 23. doi: 10.1515/jpem-2014-0031. [Epub ahead of print] PubMed PMID: 24859512.

Flanagan SE, Mackay DJ, Greeley SA, McDonald TJ, Mericq V, Hassing J, RichmondEJ, Martin WR, Acerini C, Kaulfers AM, Flynn DP, Popovic J, Sperling MA, Hussain K, Ellard S, Hattersley AT. Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia. 2013 56(1):218-21

Cohort Studies

Güven A, Cebeci AN, Ellard S, Flanagan SE. Clinical, genetic characteristics,  management and long-term follow up of Turkish patients with congenital hyperinsulinism. J Clin Res Pediatr Endocrinol. 2015 Dec 18. doi:10.4274/jcrpe.2408. [Epub ahead of print] PubMed PMID: 26758964.

Senniappan S, Sadeghizadeh A, Flanagan SE, Ellard S, Hashemipour M, Hosseinzadeh M, Salehi M, Hussain K. Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. BMC Res Notes. 2015 Aug 13;8:350. doi: 10.1186/s13104-015-1319-1. PubMed PMID:26268944; PubMed Central PMCID: PMC4535259.

Demirbilek H, Arya VB, Ozbek MN, Akinci A, Dogan M, Demirel F, Houghton J, Kaba S, Guzel F, Baran RT, Unal S, Tekkes S, Flanagan SE, Ellard S, Hussain K. Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations Eur J Endocrinol. 2014 170(6):885-92

Simşek E, Binay C, Flanagan SE, Ellard S, Hussain K, Kabukçuoğlu S. Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra. Turk J Pediatr. 2013 55(6):584-590.

Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol. 2013 15;168(4):557-64.

Banerjee I, Avatapalle H, Petkar A, Skae M, Padidela RN, Ehtisham S, Patel L, Rigby L, Flanagan SE, Ellard S, Jones C, Ciotti G, Malaiya N, Clayton PE. The association of cardiac ventricular hypertrophy with Congenital Hyperinsulinism (CHI). Eur J Endocrinol. 2012 167(5):619-24

Rare Syndromes

Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S. A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. Pediatr Diabetes. 2017 Mar 20. doi: 10.1111/pedi.12512. [Epub ahead of print] PubMed PMID: 28318089.

Bayarchimeg M, Ismail D, Lam A, Burk D, Kirk J, Hogler W, Flanagan SE, Ellard S, Hussain K. Galactokinase deficiency in a patient with congenital hyperinsulinism. JIMD Rep. 2012;5:7-11.

Flanagan SE, Kapoor RR, Smith VV, Hussain K, Ellard S. Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia. Front Endocrinol (Lausanne). 2011;2:66.

Unknown Aetiologies

Shi Y, Avatapalle HB, Skae MS, Padidela R, Newbould M, Rigby L, Flanagan SE, Ellard S, Rahier J, Clayton PE, Dunne MJ, Banerjee I, Cosgrove KE. Increased Plasma Incretin Concentrations Identifies a Subset of Patients with Persistent Congenital Hyperinsulinism without K(ATP) Channel Gene Defects. J Pediatr. 2015 Jan;166(1):191-4.

Arya VB, Flanagan SE, Kumaran A, Shield JP, Ellard S, Hussain K, Kapoor RR. Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age. Arch Dis Child Fetal Neonatal Ed. 2013 98(4):F356-8.

Medical Management

Abraham MB, Shetty VB, Price G, Smith N, Bock M, Siafarikas A, Resnick S, Whan E, Ellard S, Flanagan SE, Davis EA, Jones TW, Hussain K, Choong CS. Efficacy and  safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia. J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1391-8. doi: 10.1515/jpem-2015-0094.

Khawash P, Hussain K, Flanagan SE, Chatterjee S, Basak D. Nifedipine in Congenital Hyperinsulinism-A Case Report. J Clin Res Pediatr Endocrinol. 2015 Jun 5;7(2):151-4. doi: 10.4274/jcrpe.1978. PubMed PMID: 26316440.

Shah P, Arya VB, Flanagan SE, Morgan K, Ellard S, Senniappan S, Hussain K. Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation.J Pediatr Endocrinol Metab. 2015 May;28(5-6):695-9

Senniappan S, Alexandrescu S, Tatevian N, Shah P, Arya V, Flanagan S, Ellard S, Rampling D, Ashworth M, Brown RE, Hussain K. Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. N Engl J Med. 2014 20;370(12):1131-7.

Durmaz E, Flanagan SE, Parlak M, Ellard S, Akcurin S, Bircan I. A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycaemic infant. J Clin Res Pediatr Endocrinol. 2014 Jun 5;6(2):119-21. doi:10.4274/Jcrpe.1230. PubMed PMID: 24932607.

Demirbilek H, Shah P, Arya VB, Hinchey L, Flanagan SE, Ellard S, Hussain K. Long-term follow up of Children with Congenital Hyperinsulinism on Octreotide Therapy. J Clin Endocrinol Metab. 2014 Oct;99(10):3660-7.

Reviews

Flanagan SE, Kapoor RR, Hussain K. Genetics of congenital hyperinsulinemic hypoglycemia. Semin Pediatr Surg. 2011 20(1):13-7.

Kapoor RR, Flanagan SE, James C, Shield JP, Ellard S, Hussain K. Hyperinsulinaemic hypoglycaemia. Arch Dis Child. 2009; 94(6):450-7.