Kenton R Holden

Summary

Affiliation: Greenwood Genetic Center
Country: USA

Publications

  1. pmc X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28
    Kimberly A Hahn
    Greenwood Genetic Center, Greenwood, SC 29646, USA
    Am J Hum Genet 70:1349-56. 2002
  2. ncbi request reprint Dietary intake and blood folate levels in Honduran women of childbearing age
    Kenton R Holden
    Greenwood Genetic Center, SC, USA
    J Child Neurol 17:341-6. 2002
  3. ncbi request reprint X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype
    Kenton R Holden
    Greenwood Genetic Center, Greenwood, SC, USA
    J Child Neurol 20:852-7. 2005
  4. doi request reprint Finding new etiologies of mental retardation and hypotonia: X marks the spot
    R Curtis Rogers
    Greenwood Genetic Center, Greenwood, SC, USA
    Dev Med Child Neurol 50:104-11. 2008
  5. doi request reprint Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant
    Dan Victor Giurgiutiu
    Department of Neurosciences, Medical University of South Carolina, Charleston, SC, USA
    J Child Neurol 23:112-7. 2008
  6. doi request reprint Unbalanced translocation involving partial trisomy 9p and partial monosomy yq with neurodevelopmental delays
    Michael J Lyons
    Greenwood Genetic Center, Greenwood, Charleston, SC 29418, USA
    J Child Neurol 28:524-6. 2013
  7. pmc Seizures and X-linked intellectual disability
    Roger E Stevenson
    Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Eur J Med Genet 55:307-12. 2012
  8. pmc Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature
    Lynn Dukes-Rimsky
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 155:2146-53. 2011
  9. pmc Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder
    Joseph S Geer
    Greenwood Genetic Center, Greenwood, South Carolina 29465 1047, USA
    Pediatr Neurol 42:223-6. 2010
  10. pmc Natural history of Christianson syndrome
    Richard J Schroer
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    Am J Med Genet A 152:2775-83. 2010

Collaborators

Detail Information

Publications27

  1. pmc X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28
    Kimberly A Hahn
    Greenwood Genetic Center, Greenwood, SC 29646, USA
    Am J Hum Genet 70:1349-56. 2002
    ..The ability to measure elevated creatine in urine makes it possible to diagnose SLC6A8 deficiency in male patients with mental retardation of unknown etiology...
  2. ncbi request reprint Dietary intake and blood folate levels in Honduran women of childbearing age
    Kenton R Holden
    Greenwood Genetic Center, SC, USA
    J Child Neurol 17:341-6. 2002
    ..Our data support using an established folic acid fortification public health initiative to decrease the prevalence of neural tube defects in Honduras...
  3. ncbi request reprint X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype
    Kenton R Holden
    Greenwood Genetic Center, Greenwood, SC, USA
    J Child Neurol 20:852-7. 2005
    ....
  4. doi request reprint Finding new etiologies of mental retardation and hypotonia: X marks the spot
    R Curtis Rogers
    Greenwood Genetic Center, Greenwood, SC, USA
    Dev Med Child Neurol 50:104-11. 2008
    ..This article provides an overview of MR and its association with hypotonia, with a review of five 'new' XLMR-hypotonia syndromes...
  5. doi request reprint Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant
    Dan Victor Giurgiutiu
    Department of Neurosciences, Medical University of South Carolina, Charleston, SC, USA
    J Child Neurol 23:112-7. 2008
    ..Extensive laboratory investigations indicate that the short-chain acyl-CoA dehydrogenase gene variant is likely preventing or delaying the normal expression of the Prader-Willi syndrome phenotype...
  6. doi request reprint Unbalanced translocation involving partial trisomy 9p and partial monosomy yq with neurodevelopmental delays
    Michael J Lyons
    Greenwood Genetic Center, Greenwood, Charleston, SC 29418, USA
    J Child Neurol 28:524-6. 2013
    ..Additional evaluations of this child and his parents allowed an accurate assessment of his diagnosis, long-term prognosis, and chance of recurrence...
  7. pmc Seizures and X-linked intellectual disability
    Roger E Stevenson
    Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Eur J Med Genet 55:307-12. 2012
    ..The majority of the genes associated with XLID and seizures have now been identified...
  8. pmc Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature
    Lynn Dukes-Rimsky
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 155:2146-53. 2011
    ..We determined a common region of deletion overlap that appears unique to ID, short stature, hypotonia, and dysmorphic facial features...
  9. pmc Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder
    Joseph S Geer
    Greenwood Genetic Center, Greenwood, South Carolina 29465 1047, USA
    Pediatr Neurol 42:223-6. 2010
    ..A rare gene mutation in MCOLN1 was confirmed in one of the two patients, in addition to abnormal serum gastrin levels. More striking was the length of time that these children eluded detection of their final diagnosis...
  10. pmc Natural history of Christianson syndrome
    Richard J Schroer
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    Am J Med Genet A 152:2775-83. 2010
    ..Here we report on nonsense mutations in two additional families. The natural history is detailed in childhood and adult life, the similarities to Angelman syndrome confirmed, and the MRI/MRS findings documented in three affected boys...
  11. ncbi request reprint X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome
    A Lauren Cason
    1J C Self Research Institute, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Eur J Hum Genet 11:937-44. 2003
    ..Additionally, the presence of MR reflects a role for spermine in cognitive function, possibly by spermine's ability to function as an 'intrinsic gateway' molecule for inward rectifier K(+) channels...
  12. doi request reprint LIS1 duplication: expanding the phenotype
    Jason P Lockrow
    Department of Neurosciences Neurology, Medical University of South Carolina, Charleston, SC, USA
    J Child Neurol 27:791-5. 2012
    ..The radiographic pattern has not been documented in the presence of a LIS1 gene abnormality, and suggests that altered expression of LIS1 has wider phenotypic manifestations than currently defined...
  13. doi request reprint Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency
    Laura M Pollard
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    J Child Neurol 25:954-60. 2010
    ..However, they emphasize the need for timely diagnosis to urgently implement prophylactic treatment for life-threatening metabolic crises with low protein/fat diets supplemented with riboflavin and carnitine...
  14. ncbi request reprint POMGnT1 gene alterations in a family with neurological abnormalities
    Virginie S Vervoort
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA
    Ann Neurol 56:143-8. 2004
    ..R442C) inherited from their father. Our findings further define the phenotypic spectrum of MEB and its occurrence in the US population...
  15. doi request reprint Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2)
    Day M Burruss
    College of Medicine, Medical University of South Carolina, Charleston, SC, USA
    J Child Neurol 27:786-90. 2012
    ....
  16. ncbi request reprint Early onset alpha-mannosidosis with slow progression in three Hispanic males
    Michael J Lyons
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    Dev Med Child Neurol 49:854-7. 2007
    ..This report illustrates the difficulty in determining a strict genotype-phenotype correlation in AMS, and supports screening for oligosaccharides in children with neurodevelopmental delay with mild phenotypic signs and symptoms...
  17. ncbi request reprint Expansion of the deletion 13q syndrome phenotype: a case report
    Eboni I Lance
    Department of Neurosciences, Medical University of South Carolina, Charleston, SC, USA
    J Child Neurol 22:1124-7. 2007
    ..This case report will contribute to more accurate genetic counseling as well as may help identify more individuals with this syndrome...
  18. doi request reprint A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype
    Mary L Gregory
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA
    J Child Neurol 23:1433-8. 2008
    ..The 7-year-old child recently reponded well to a benzodiazepine. Future studies are warranted to examine whether this new missense mutation is solely responsible for this atypical phenotype...
  19. doi request reprint Autism in two females with duplications involving Xp11.22-p11.23
    Anna C Edens
    College of Medicine, Medical University of South Carolina, Charleston, SC, USA
    Dev Med Child Neurol 53:463-6. 2011
    ..Brain MRI was normal, but EEG was abnormal. Both patients have duplications involving the Xp11.22-p11.23 region, indicating that this is an area of interest for future translational autism research...
  20. doi request reprint Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita
    Michael J Lyons
    Greenwood Genetic Center, Greenwood, South Carolina 29418, USA
    Pediatr Neurol 42:365-8. 2010
    ..The patient received carbamazepine treatment for 1 year, resulting in decreased muscle stiffness, increased strength, and improved quality of life in school and with peers...
  21. doi request reprint United States head circumference growth reference charts: birth to 21 years
    Jonathan D Rollins
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA
    J Pediatr 156:907-13, 913.e1-2. 2010
    ..To produce a more reliable, continuous set of occipitofrontal head circumference (OFC) growth reference charts for males and females from birth to adulthood in the United States...
  22. doi request reprint Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family
    Claudia Amador
    Department of Neurology, Hospital Escuela, Tegucigalpa, Honduras
    J Child Neurol 23:901-5. 2008
    ..These findings expand the neurologic phenotype and prognosis and underscore the importance of counseling families with oculodentodigital dysplasia about the possibility of neurologic involvement...
  23. ncbi request reprint Epidemiology of childhood Guillain-Barré syndrome as a cause of acute flaccid paralysis in Honduras: 1989-1999
    Marco R Molinero
    Department of Pediatric Neurology, Hospital Escuela Materno Infantil, Tegucigalpa, Honduras, Central America
    J Child Neurol 18:741-7. 2003
    ....
  24. ncbi request reprint Developing a neurology training program in Honduras: a joint project of neurologists in Honduras and the World Federation of Neurology
    Marco T Medina
    Education Committee, World Federation of Neurology, Honduras
    J Neurol Sci 253:7-17. 2007
    ..Based on this Honduras experience, members of the Education Committee of the WFN have established guidelines for neurology training programs in developing countries...
  25. ncbi request reprint Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis
    Jodi A Dodds
    Department of Neurosciences, Medical University of South Carolina, Charleston, USA
    J Child Neurol 21:331-3. 2006
    ....
  26. ncbi request reprint A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia
    Shambhu S Bhat
    Am J Med Genet A 138:70-2. 2005
  27. ncbi request reprint Prevalence, incidence, and etiology of epilepsies in rural Honduras: the Salamá Study
    Marco T Medina
    Neurology Training Program, Postgraduate Direction, National Autonomous University of Honduras, Honduras
    Epilepsia 46:124-31. 2005
    ..However, cost-effectiveness may be proven if preventive public-health strategies can be established from the test results. We report an epilepsy population-based study using clinical and laboratory techniques...