Research Topics
Genomes and Genes | Kenton R HoldenSummaryAffiliation: Greenwood Genetic Center Country: USA Publications
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Publications
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28Kimberly 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...
Dietary intake and blood folate levels in Honduran women of childbearing ageKenton 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...- X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotypeKenton R Holden
Greenwood Genetic Center, Greenwood, SC, USA
J Child Neurol 20:852-7. 2005.... 
Finding new etiologies of mental retardation and hypotonia: X marks the spotR 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...- Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variantDan 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... - Seizures and X-linked intellectual disabilityRoger 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... - Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short statureLynn 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... - X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndromeA 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... - Natural history of Christianson syndromeRichard 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... - Mucolipidosis type IV: a subtle pediatric neurodegenerative disorderJoseph 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... - LIS1 duplication: expanding the phenotypeJason 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... - POMGnT1 gene alterations in a family with neurological abnormalitiesVirginie 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... - Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiencyLaura 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... - Unbalanced translocation involving partial trisomy 9p and partial monosomy yq with neurodevelopmental delaysMichael 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... - 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.... - Early onset alpha-mannosidosis with slow progression in three Hispanic malesMichael 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... - A novel GLRA1 mutation associated with an atypical hyperekplexia phenotypeMary 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... - Expansion of the deletion 13q syndrome phenotype: a case reportEboni 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... - Autism in two females with duplications involving Xp11.22-p11.23Anna 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... - Novel CLCN1 mutation in carbamazepine-responsive myotonia congenitaMichael 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... - United States head circumference growth reference charts: birth to 21 yearsJonathan 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... - Developing a neurology training program in Honduras: a joint project of neurologists in Honduras and the World Federation of NeurologyMarco 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... - A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitaliaShambhu S Bhat
Am J Med Genet A 138:70-2. 2005 - Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic familyClaudia 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... - Prevalence, incidence, and etiology of epilepsies in rural Honduras: the Salamá StudyMarco 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... - Epidemiology of childhood Guillain-Barré syndrome as a cause of acute flaccid paralysis in Honduras: 1989-1999Marco R Molinero
Department of Pediatric Neurology, Hospital Escuela Materno-Infantil, Tegucigalpa, Honduras, Central America
J Child Neurol 18:741-7. 2003.... - Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisisJodi A Dodds
Department of Neurosciences, Medical University of South Carolina, Charleston, USA
J Child Neurol 21:331-3. 2006....