Research Topics
Genomes and GenesSpecies | Elizabeth Berry-KravisSummaryAffiliation: Rush University Medical Center Country: USA Publications
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Publications
Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS)Andrew Knox
Department of Pediatrics, Rush University Medical Center, 1725 West Harrison, Suite 718, Chicago, IL 60612, USA
J Neurodev Disord 4:2. 2012..abstract:..
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotypeElizabeth M Berry-Kravis
Department of Neurology, Rush University Medical Center, Chicago, IL, USA
Am J Respir Crit Care Med 174:1139-44. 2006....- Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivationElizabeth Berry-Kravis
Department of Pediatrics, Rush University Medical Center, 1275 West Harrison Street, Suite 718, Chicago, IL 60612, USA
Ann Neurol 57:144-7. 2005.... 
Seizures in fragile X syndrome: characteristics and comorbid diagnosesElizabeth Berry-Kravis
Rush University Medical Center, Chicago, IL, USA
Am J Intellect Dev Disabil 115:461-72. 2010..Although seizures in fragile X syndrome are typically not severe and easily treated with medications, they appear to be associated with developmental–behavioral comorbidity that impacts function...- A pilot open label, single dose trial of fenobam in adults with fragile X syndromeE Berry-Kravis
Departments of Pediatrics, Rush University Medical Center, 1725 West Harrison Street, Suite 718, Chicago, IL 60612, USA
J Med Genet 46:266-71. 2009..A pilot open label, single dose trial of fenobam, an mGluR5 antagonist, was conducted to provide an initial evaluation of safety and pharmacokinetics in adult males and females with fragile X syndrome (FXS)... - Open-label treatment trial of lithium to target the underlying defect in fragile X syndromeElizabeth Berry-Kravis
Department of Pediatrics, Rush University Medical Center, University of Illinois at Chicago, IL 60612, USA
J Dev Behav Pediatr 29:293-302. 2008..Lithium reduces mGluR-activated translation and reverses phenotypes in the dfxr mutant fly and fmr1 knockout mouse. This pilot add-on trial was conducted to evaluate safety and efficacy of lithium in humans with FXS... - Tremor and ataxia in fragile X premutation carriers: blinded videotape studyElizabeth Berry-Kravis
Department of Neurological Sciences, Rush Presbyterian St Luke s Medical Center, Chicago, IL 60612, USA
Ann Neurol 53:616-23. 2003..Given the relatively high population frequency of the FMR1 premutation, this mutation may be a significant cause of late-onset "idiopathic" progressive tremor... - Characterization of potential outcome measures for future clinical trials in fragile X syndromeElizabeth Berry-Kravis
Department of Pediatrics, Rush University Medical Center, 1725 W Harrison St, Suite 718, Chicago, IL, USA
J Autism Dev Disord 38:1751-7. 2008.... - Targeted treatments for fragile X syndromeElizabeth Berry-Kravis
Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Section of Pediatric Neurology, RUMC, 1725 West Harrison, Suite 718, Chicago, IL, 60612, USA
J Neurodev Disord 3:193-210. 2011..Therefore, targeted treatments developed for FXS may also target subgroups of ASD, and clinical trials in FXS may serve as a model for the development of clinical trial strategies for ASD and other cognitive disorders... - Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelinesElizabeth Berry-Kravis
Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
Mov Disord 22:2018-30, quiz 2140. 2007..We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made... - Carnitine levels and the ketogenic dietE Berry-Kravis
Department of Pediatrics, Rush Presbyterian St Luke s Medical Center, Chicago, Illinois 60612, USA
Epilepsia 42:1445-51. 2001..To determine the long-term effect of the ketogenic diet (KD) on carnitine levels and whether carnitine depletion is a significant cause of clinical complications during KD initiation or treatment... - Epilepsy in fragile X syndromeElizabeth Berry-Kravis
Department of Pediatrics, Rush Presbyterian St Luke s Medical Center, Chicago, IL 60612, USA
Dev Med Child Neurol 44:724-8. 2002..Deficiency of FMRP (fragile X mental retardation protein) appears to lead to increased neuronal excitability and susceptibility to epilepsy, but particularly seems to facilitate mechanisms leading to the BFEC pattern... - Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trialElizabeth Berry-Kravis
Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
J Child Adolesc Psychopharmacol 16:525-40. 2006.... - The apolipoprotein E epsilon 4 allele and decline in different cognitive systems during a 6-year periodRobert S Wilson
Rush Alzheimer s Disease Center and Rush Institute for Healthy Aging, 1645 W Jackson Blvd, Suite 675, Chicago, IL 60612, USA
Arch Neurol 59:1154-60. 2002..The apolipoprotein E (APOE) epsilon 4 allele is known to influence risk of AD but it has been difficult to establish whether it affects episodic memory differently from other cognitive functions... - FMR1 gray-zone alleles: association with Parkinson's disease in women?Deborah A Hall
Department of Neurological Sciences, Rush University, 1725 West Harrison St, Suite 755, Chicago, IL 60611, USA
Mov Disord 26:1900-6. 2011..Our results, however, suggest that fragile X mental retardation 1 gray-zone alleles may be associated with Parkinson's disease in women... - Progression of tremor and ataxia in male carriers of the FMR1 premutationMaureen A Leehey
Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado 80262, USA
Mov Disord 22:203-6. 2007..Preliminary data on life expectancy are variable, with a range from 5 to 25 years... - Neuropathic features in fragile X premutation carriersElizabeth Berry-Kravis
Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA
Am J Med Genet A 143:19-26. 2007..These data suggest that neuropathic signs are associated with the fragile X premutation, presumably occurring through the same mechanism proposed for CNS disease, namely, toxicity from expanded-CGG-repeat FMR1 mRNA... - Symptomatic treatment in the fragile X-associated tremor/ataxia syndromeDeborah A Hall
Department of Neurology, University of Colorado Health Sciences Center at Denver, Denver, Colorado 80262, USA
Mov Disord 21:1741-4. 2006..This study suggests that patients with FXTAS can derive improvement from medication treatment for some of their symptoms... - Incidence of Alzheimer disease in a biracial urban community: relation to apolipoprotein E allele statusDenis A Evans
Rush Institute on Healthy Aging, Chicago, IL, USA
Arch Neurol 60:185-9. 2003..Few studies compare Alzheimer disease (AD) incidence among black and white subjects... - Fragile X syndrome and targeted treatment trialsRandi Hagerman
Department of Pediatrics, University of California, Sacramento, CA, USA
Results Probl Cell Differ 54:297-335. 2012.... - Amyloid mediates the association of apolipoprotein E e4 allele to cognitive function in older peopleD A Bennett
Rush Alzheimer s Disease Center, Armour Academic Center, 600 South Paulina, Suite 1028 Chicago, IL 60612, USA
J Neurol Neurosurg Psychiatry 76:1194-9. 2005..The neurobiological changes underlying the association of the apolipoprotein E (APOE) e4 allele with level of cognition are poorly understood... - The apolipoprotein E epsilon4 allele increases the odds of chronic cerebral infarction [corrected] detected at autopsy in older personsJ A Schneider
Rush AD Center and Rush Institute for Healthy Aging, Rush University Medical Center, Chicago, Ill, USA
Stroke 36:954-9. 2005..Little data are available regarding the relation of apoE epsilon4 to cerebral infarctions documented on postmortem examination... - Genetic variation analysis in parkinson disease patients with and without hallucinations: case-control studyC G Goetz
Department of Neurological Sciences, Rush University Rush Presbyterian St Luke s Medical Center, 1725 W Harrison St, Chicago, IL 60612, USA
Arch Neurol 58:209-13. 2001..Another study linked the apolipoprotein E4 (APOE4) allele to hallucinations in PD... - Bruising and the ketogenic diet: evidence for diet-induced changes in platelet functionE Berry-Kravis
Department of Pediatrics, Rush Presbyterian St Luke s Medical Center, Chicago, IL 60612, USA
Ann Neurol 49:98-103. 2001..Patients on the diet undergoing anticoagulation or surgery should be evaluated carefully for symptoms of bleeding tendency... - Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new casesW T Hsu
Department of Pediatrics, Rush Medical College, Chicago, Illinois, USA
Am J Med Genet 80:473-80. 1998..As 80% of these patients were ascertained because of the presence of abnormal levels of MSAFP or MShCG, the increased use of maternal serum screening should bring more such cases to clinical attention... - The apolipoprotein E epsilon 2 allele and decline in episodic memoryR S Wilson
Rush Alzheimer s Disease Center and Rush Institute for Healthy Aging, Department of Neurological Sciences, Rush Presbyterian St Luke s Medical Center, Chicago, USA
J Neurol Neurosurg Psychiatry 73:672-7. 2002.... - Apolipoprotein E epsilon4 allele, AD pathology, and the clinical expression of Alzheimer's diseaseD A Bennett
Rush Alzheimer s Disease Center, Chicago, Illinois 60612, USA
Neurology 60:246-52. 2003..To test the hypothesis that the APOE epsilon4 allele is associated with the clinical manifestations of AD through an association with the pathologic hallmarks of disease... - Autonomic regulation in fragile X syndromeKeri J Heilman
Department of Psychiatry, Brain Body Center MC 912, University of Illinois at Chicago, USA
Dev Psychobiol 53:785-95. 2011..The observed indices of atypical autonomic regulation, consistent with the Polyvagal Theory, may contribute to the deficits in social behavior and social communication observed in FXS... - The apolipoprotein E epsilon4 allele and incident Alzheimer's disease in persons with mild cognitive impairmentNeelum T Aggarwal
Rush Alzheimer s Disease Center, Rush University Medical Center, Chicago, Illinois 60612 3872, USA
Neurocase 11:3-7. 2005..02, 2.63). There was a marginally significant reduction in the effect of epsilon4 in older compared to younger participants (p=.053). The results suggest that possession of an epsilon4 allele does increase risk of AD in persons with MCI... - Fragile X: leading the way for targeted treatments in autismLulu W Wang
Department of Pediatrics, University of California, Davis, School of Medicine, Sacramento, California 95817, USA
Neurotherapeutics 7:264-74. 2010..In those with large premutations (150-200), lowered levels of FMRP also occur... - Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US surveyDonald B Bailey
RTI International, Research Triangle Park, 3040 Cornwallis Road, Research Triangle Park, NC 27709, USA
J Dev Behav Pediatr 33:62-9. 2012..To identify the most common neurological and behavioral symptoms treated by medications in individuals with fragile X syndrome (FXS), factors associated with treatment variability, and difficulty in swallowing a pill... - Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin systemJennifer G Goldman
Department of Neurological Sciences, Rush Presbyterian St Luke s Medical Center, Chicago, Ill 60612, USA
Arch Neurol 61:1280-4. 2004..Because CCK gene polymorphisms vary across ethnic groups, the presence of similar associations in white PD subjects merits investigation... - Clinic-based retrospective analysis of psychopharmacology for behavior in fragile x syndromeElizabeth Berry-Kravis
Department of Pediatrics, Rush University Medical Center, Chicago, IL 60612, USA
Int J Pediatr 2012:843016. 2012..Side effect-related failures were highest for antipsychotics. Systematic psychopharmacologic intervention targeted to behavioral symptoms appears helpful in the majority of patients with FXS... - Psychopharmacology in fragile X syndrome--present and futureElizabeth Berry-Kravis
Department of Pediatrics, Neurology, and Biochemistry, RUSH-University Medical Center, Chicago, Illinois 60612, USA
Ment Retard Dev Disabil Res Rev 10:42-8. 2004..This article summarizes knowledge about effectiveness and approaches to management of currently available psychopharmacology for behavior in FXS and discusses early leads to future treatments for cognition... - Changes in growth and seizure reduction in children on the ketogenic diet as a treatment for intractable epilepsySarah J Peterson
Department of Clinical Nutrition, Rush University Medical Center 425, 1700 West Van Buren, Chicago, IL 60612, USA
J Am Diet Assoc 105:718-25. 2005..To assess growth and seizure reduction in epileptic children using the ketogenic diet as a treatment for intractable epilepsy... - New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPANPenelope Hogarth
Department of Neurology, Oregon Health and Science University, Portland, USA
Neurology 80:268-75. 2013..To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype... - Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndromeV L Sheen
Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Boston, MA, USA
Neurology 64:254-62. 2005..To define the clinical, radiologic, and genetic features of periventricular heterotopia (PH) with Ehlers-Danlos syndrome (EDS)... - FMR1 CGG repeat length predicts motor dysfunction in premutation carriersM A Leehey
Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, CO 80262, USA
Neurology 70:1397-402. 2008..This study determines whether CGG repeat length correlates with severity and type of motor dysfunction in premutation carriers... - X-linked lissencephaly with absent corpus callosum and ambiguous genitaliaW B Dobyns
Departments of Human Genetics, Neurology, and Pediatrics, The University of Chicago, Chicago, Illinois 60637, USA
Am J Med Genet 86:331-7. 1999..Therefore, we propose that this disorder comprises a new X-linked malformation syndrome, which we refer to as X-linked lissencephaly with ambiguous genitalia (XLA-G)... - In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndromeDebra E Weese-Mayer
Pediatric Respiratory Medicine at Rush Children s Hospital, Rush University Medical Center, 1653 West Congress Parkway, Chicago, IL 60612, USA
Respir Physiol Neurobiol 149:73-82. 2005.... - Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHSDebra E Weese-Mayer
Am J Respir Crit Care Med 171:88. 2005 - Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunctionJames A Brunberg
Department of Radiology, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA
AJNR Am J Neuroradiol 23:1757-66. 2002..Recognition of these alterations may support a specific diagnosis and may have implications for the potential occurrence of fragile X syndrome in the children of reproductive age female relatives... - Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic developmentDebra E Weese-Mayer
Department of Pediatrics, Rush Children s Hospital at Rush University Medical Center, Chicago, IL 60612, USA
Pediatr Res 56:391-5. 2004..These data represent further refinement of the genetic profile that might place an infant at risk for SIDS... - Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan diseaseDebra E Weese-Mayer
Pediatric Respiratory Medicine, Rush Children's Hospital, 1653 West Congress Parkway, Chicago, IL 60612, USA
Am J Respir Crit Care Med 170:16-21. 2004 - Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2bDebra E Weese-Mayer
Department of Pediatrics, Rush Children s Hospital at Rush Presbyterian St Luke s Medical Center, Rush University, Chicago, Illinois 60612, USA
Am J Med Genet A 123:267-78. 2003.... - Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysisDebra E Weese-Mayer
Department of Pediatrics, Rush Children s Hospital at Rush Presbyterian St Luke s Medical Center, Rush University, 1653 West Congress Parkway, Chicago, IL 60612, USA
Am J Med Genet A 122:238-45. 2003.... - Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter geneDebra E Weese-Mayer
Department of Pediatrics, Rush University, Rush Children s Hospital at Rush Presbyterian St Luke s Medical Center, 1653 West Congress Parkway, Chicago, IL 60612, USA
Am J Med Genet A 117:268-74. 2003.... - Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphologyEmily S Todd
Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
Pediatr Res 59:39-45. 2006..These results suggest a characteristic facial phenotype in children and young adults with CCHS, due to an expansion mutation in PHOX2B... - 3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysisBrion S Maher
Am J Med Genet A 140:1453-7. 2006 - Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndromeEmily S Todd
Department of Pediatrics, Rush Children's Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA
Pediatrics 118:e408-14. 2006..An expanded congenital central hypoventilation syndrome data set to include the full spectrum of PHOX2B mutations is necessary to further delineate the role of PHOX2B in dermatoglyphic patterning... - PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthoodNick A Antic
Adelaide Institute for Sleep Health, Repatriation General Hospital, Daw Park, South Australia, Australia, and Sleep Disorders Division, Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA
Am J Respir Crit Care Med 174:923-7. 2006..Report of these cases should lead to a more rapid identification of CCHS presenting in adulthood... - Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndromeCasey M Rand
Department of Pediatrics, Rush Children s Hospital at Rush University Medical Center, 1653 West Congress Parkway, Chicago, IL 60612, USA
Am J Med Genet A 140:1447-52. 2006..A prospective study of SIDS cases with nicotine exposure history is necessary to resolve the relationship between nicotine metabolizing genes and SIDS... - Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B geneCasey M Rand
Department of Pediatrics, Rush Children's Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA
Am J Med Genet A 140:1687-91. 2006 - Sudden Infant Death Syndrome: review of implicated genetic factorsDebra E Weese-Mayer
Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA
Am J Med Genet A 143:771-88. 2007.... - CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)Flora Tassone
Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California 95616, USA
Am J Med Genet B Neuropsychiatr Genet 144:566-9. 2007..001) and ataxia (P = 0.002), as well as overall onset (P < 0.0001). Our findings indicate that the CGG repeat number is a potential predictor of the age of onset of core motor features of FXTAS... - Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndromeAndre Diedrich
Dept of Medicine, Division of Clinical Pharmacology, Autonomic Dysfunction Center, Vanderbilt University School of Medicine, Nashville, TN, USA
Clin Auton Res 17:177-85. 2007.... - Sudden infant death syndrome: rare mutation in the serotonin system FEV geneCasey M Rand
Department of Pediatrics, Rush Children s Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA
Pediatr Res 62:180-2. 2007.... - Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhoodDiego Ize Ludlow
Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
Pediatrics 120:e179-88. 2007..The goal was to characterize the phenotype and potential candidate genes responsible for the syndrome of late-onset central hypoventilation with hypothalamic dysfunction... - Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden deathJerome O Gronli
Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
Pediatr Pulmonol 43:77-86. 2008..We hypothesized that children with CCHS would have a relationship between PHOX2B genotype and two clinically applicable cardiovascular measures of ANSD: duration of longest r-r interval and longest corrected QT interval (QTc)... - Viral delivery of glial cell line-derived neurotrophic factor improves behavior and protects striatal neurons in a mouse model of Huntington's diseaseJodi L McBride
Department of Neurological Sciences, Rush University Medical Center, 1735 West Harrison Street, Suite 300, Chicago, IL 60612, USA
Proc Natl Acad Sci U S A 103:9345-50. 2006..These data further support the concept that viral vector delivery of GDNF may be a viable treatment for patients suffering from HD... - Genetic variation in the HTR1A gene and sudden infant death syndromeMegan E Morley
Department of Pediatrics, Rush Children's Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA
Am J Med Genet A 146:930-3. 2008