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Stephen G. Kahler, M.D.

Picture of Picture ofStephen G. Kahler
  • Professor, College of Medicine, Department of Pediatrics
  • Professor, College of Medicine


  • Genetics & Metabolism


  • Genetics

Contact Information

  • Email:
    Phone: 501-364-2966
    Fax: 501-364-1564
    Address: Arkansas Children's Hospital
    1 Children's Way
    Little Rock, AR 72202


  • M.D., Duke University, 1973
  • A.B., Princeton University, 1969


  • Internship, Pediatrics, University Hospital, 1973-1974
  • Resident , Pediatrics, University Hospital, 1974-1976
  • Chief Resident (5 months--shared chief res position), Pediatrics, University Hospital, 1975-1976
  • Fellowship, Genetics, University of North Carolina School of Medicine, 1977-1980

Licensure and Board Certification

  • American Board of Medical Specialties, Medical Genetics, Clinical Biochemical Genetics
  • American Board of Medical Specialties, Medical Genetics, Clinical Genetics (M.D.)
  • American Board of Medical Specialties, Pediatrics

Clinical & Research Interests

  • Clinical Research, Translational Research, Birth defects, inborn errors of metabolism, autism (especially biochemical and nutritional aspects), and anything with a genetic component; Newborn screening

Recent Publications

  • Journal Article, Parikh S., Goldstein A., Koenig MK., Scaglia F., Enns GM., Saneto R., Anselm I., Collins A., Cohen BH., DeBrosse SD., Dimmock D., Ganesh J., Greene C., Gropman AL., Haas R., Kahler SG., Kamholz J., Kendall F., Korson MS., Mattman A., Milone M., Niyazov D., Pearl PL., Reimschisel T., Salvarinova-Zivkovic R., Sims K., Tarnopolsky M., Tsao CY., van Hove J., Walsh L., Wolfe LA. Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management.. Mitochondrion 2013 Nov; 13(6):681-7.
  • Journal Article, Parikh S,Goldstein A,Koenig MK,Scaglia F,Enns GM,Saneto R,Anselm I,Collins A,Cohen BH,Debrosse SD,Dimmock D,Falk MJ,Ganesh J,Greene C,Gropman AL,Haas R,Kahler SG,Kamholz J,Kendall F,Korson MS,Mattman A,Milone M,Niyazov D,Pearl PL,Reimschisel T,Salvarinova-Zivkovic R,Sims K,Tarnopolsky M,Tsao CY,van Hove J,Walsh L,Wolfe LA Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges. Mitochondrion 2013 Jul 26.
  • Journal Article, Sanmann JN;Bishay DL;Starr LJ;Bell CA;Pickering DL;Stevens JM;Kahler SG;Olney AH;Schaefer GB;Sanger WG; Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome. Am J Med Genet A 2012 Jun 158A (6): 1285 - 1291.
  • Journal Article, Nitschke Y;Baujat G;Botschen U;Wittkampf T;du MM;Stella J;Le MM;Guest G;Lambot K;Tazarourte-Pinturier MF;Chassaing N;Roche O;Feenstra I;Loechner K;Deshpande C;Garber SJ;Chikarmane R;Steinmann B;Shahinyan T;Martorell L;Davies J;Smith WE;Kahler SG;McCulloch M;Wraige E;Loidi L;Hohne W;Martin L;Hadj-Rabia S;Terkeltaub R;Rutsch F; Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 2012 Jan 13 90 (1): 25 - 39.
  • Journal Article, Melnyk S;Fuchs GJ;Schulz E;Lopez M;Kahler SG;Fussell JJ;Bellando J;Pavliv O;Rose S;Seidel L;Gaylor DW;James SJ; Metabolic imbalance associated with methylation dysregulation and oxidative damage in children with autism. J Autism Dev Disord 2012 Mar 42 (3): 367 - 377.
  • Journal Article, Ware SM;El-Hassan N;Kahler SG;Zhang Q;Ma YW;Miller E;Wong B;Spicer RL;Craigen WJ;Kozel BA;Grange DK;Wong LJ; Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet 2009 May 46 (5): 308 - 314.
  • Journal Article, Stamm DS;Powell CM;Stajich JM;Zismann VL;Stephan DA;Chesnut B;Aylsworth AS;Kahler SG;Deak KL;Gilbert JR;Speer MC; Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology 2008 Nov 25 71 (22): 1764 - 1769.
  • Journal Article, Stamm DS;Aylsworth AS;Stajich JM;Kahler SG;Thorne LB;Speer MC;Powell CM; Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. Am J Med Genet A 2008 Jul 15 146A (14): 1832 - 1841.
  • Journal Article, Arnold GL;Koeberl DD;Matern D;Barshop B;Braverman N;Burton B;Cederbaum S;Fiegenbaum A;Garganta C;Gibson J;Goodman SI;Harding C;Kahler S;Kronn D;Longo N; A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 2008 Apr 93 (4): 363 - 370.
  • Journal Article, Herbert MR., Russo JP., Yang S., Roohi J., Blaxill M., Kahler SG., Cremer L., Hatchwell E. Autism and environmental genomics. Neurotoxicology 2006 Sep; 27(5):671 - 684.

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