• Basel-Vanagaite L, Dobyns WB. 2010. Clinical and brain imaging heterogeneity of severe microcephaly. Pediatr Neurol 43: 716.
  • Biason-Lauber A, Lang-Muritano M, Vaccaro T, Schoenle EJ. 2002. Loss of kinase activity in a patient with Wolcott–Rallison syndrome caused by a novel mutation in the EIF2AK3 gene. Diabetes 51: 23012305.
  • Castelnau P, Le Merrer M, Diatloff-Zito C, Marquis E, Tête M-J, Robert J-J. 2000. Wolcott–Rallison syndrome: A case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy. Eur J Pediatr 159: 631633.
  • de Wit M, de Coo I, Julier C, Delépine M, Lequin M, van de Laar I, Sibbles B, Bruining G, Mancini G. 2006. Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. Neurogenetics 7: 259263.
  • Delepine M, Nicolino M, Barrett T, Golamaully M, Mark Lathrop G, Julier C. 2000. EIF2AK3, encoding translation initiation factor 2-[alpha] kinase 3, is mutated in patients with Wolcott–Rallison syndrome. Nat Genet 25: 406409.
  • Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanne-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ. 2006. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet 14: 824830.
  • Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG. 2004. Wolcott–Rallison syndrome: A clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature. Acta Paediatr 93: 11951201.
  • Jiang H-Y, Wek SA, McGrath BC, Scheuner D, Kaufman RJ, Cavener DR, Wek RC. 2003. Phosphorylation of the α subunit of eukaryotic initiation factor 2 is required for activation of NF-κB in response to diverse cellular stresses. Mol Cell Biol 23: 56515663.
  • Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P. 2010. Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol 90: 363383.
  • McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. 2010. The genome analysis toolkit: A MAPREDUce framework for analyzing next-generation DNA sequencing data. Genome Res 20: 12971303.
  • Molinari F. 2010. Mitochondria and neonatal epileptic encephalopathies with suppression burst. J Bioenerg Biomembr 42: 467471.
  • Ozbek MN, Senée V, Aydemir S, Kotan LD, Mungan NO, Yuksel B, Julier C, Topaloglu AK. 2010. Wolcott–Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. Pediatr Diabetes 11: 279285.
  • Park I-H, Zhao R, West JA, Yabuuchi A, Huo H, Ince TA, Lerou PH, Lensch MW, Daley GQ. 2008. Reprogramming of human somatic cells to pluripotency with defined factors. Nature 451: 141146.
  • Poulton CJ, Schot R, Kia SK, Jones M, Verheijen FW, Venselaar H, de Wit MC, de Graaff E, Bertoli-Avella AM, Mancini GMS. 2011. Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. Am J Hum Genet 89: 265276.
  • Riikonen R, Somer M, Turpeinen U. 1999. Low insulin-like growth factor (igf-1) in the cerebrospinal fluid of children with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome and cerebellar degeneration. Epilepsia 40: 16421648.
  • Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS. 2004. Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet 36: 13011305.
  • Senee V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec J-C, Charon C, Nicolino M, Boileau P, Cavener DR, Bougneres P, Taha D, Julier C. 2006. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet 38: 682687.
  • Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA. 2010. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet 42: 245249.
  • Slingerland A, Shields B, Flanagan S, Bruining G, Noordam K, Gach A, Mlynarski W, Malecki M, Hattersley A, Ellard S. 2009. Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia 52: 16831685.
  • Somer M. 1993. Diagnostic criteria and genetics of the PEHO syndrome. J Med Genet 30: 932936.
  • Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, Pearson E, Hattersley AT, Ellard S, Klimes I. 2007. Prevalence of permanent neonatal diabetes in slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab 92: 12761282.
  • Wolcott CD, Rallison ML. 1972. Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. J Pediatr 80: 292297.
  • Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topcu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. 2010. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet 42: 10151020.