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Specialty:
Child Neurology
Neurology
Pediatrics
Board Certification:
Faculty Rank: Professor
Medical or Graduate Education:
University of Chicago Pritzker School of Medicine
Residency:
University of Chicago Medical Center - Pediatrics
Fellowship:
University of Chicago Medical Center - Pediatric Neurology
Clinical Expertise:
Fragile X syndrome
Mitochondrial diseases
Neurogenetic diseases
Research Interests:
Fragile X syndrome
Genotype-phenotype studies of neurodegenerative and neurogenetic diseases
Risk factors for neurodegenerative and neurogenetic diseases
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Below is a list of scientific publications for which this practitioner was either the primary author or a contributor. Citations come from PubMed, a database of biomedical literature, life science journals and online books. PubMed is a service of the US Library of Medicine at the National Institutes of Health. Click on the title of the cited work for more information (this will take you directly to PubMed.gov). Listings go back five years.
Clinic-based retrospective analysis of psychopharmacology for behavior in fragile x syndrome. Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial. Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation: Are We Missing the Diagnosis? Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS). New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Newborn, carrier, and early childhood screening recommendations for fragile x. Update on Kleefstra Syndrome. Fragile X syndrome and targeted treatment trials. Targeted treatments for fragile X syndrome. Psychometric Study of the Aberrant Behavior Checklist in Fragile X Syndrome and Implications for Targeted Treatment. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Medication Utilization for Targeted Symptoms in Children and Adults With Fragile X Syndrome: US Survey. Autonomic regulation in fragile X syndrome. FMR1 gray-zone alleles: Association with Parkinson's disease in women? Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond. Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056 Reliability of Eye Tracking and Pupillometry Measures in Individuals with Fragile X Syndrome Mutations in prickle orthologs cause seizures in flies, mice, and humans Variable human phenotype associated with novel deletions of the PHOX2B gene. Executive dysfunction in young FMR1 premutation carriers: forme fruste of FXTAS or new phenotype? Monozygotic Twins Discordant for ROHHAD Phenotype. Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. Racial differences may influence the role of cholecystokinin polymorphisms in Parkinson's disease hallucinations. Reversal of fragile X phenotypes by manipulation of AβPP/Aβ levels in Fmr1KO mice. Open-label add-on treatment trial of minocycline in fragile X syndrome Seizures in fragile X syndrome: characteristics and comorbid diagnoses Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management Aging in fragile X syndrome Fragile X: leading the way for targeted treatments in autism Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Fibroblast phenotype in male carriers of FMR1 premutation alleles Congenital central hypoventilation syndrome: neurocognitive functioning in school age children A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb-Williams mazes. Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP) Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine A review of fragile X premutation disorders: expanding the psychiatric perspective Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene Advances in the treatment of fragile X syndrome HTR2A variation and sudden infant death syndrome: a case-control analysis A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome. Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington's disease A pilot open label, single dose trial of fenobam in adults with fragile X syndrome Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome Characterization of potential outcome measures for future clinical trials in fragile X syndrome Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Genetic variation in the HTR1A gene and sudden infant death syndrome Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems
To watch a brief video of Elizabeth M. Berry-Kravis, MD, PhD, click the play button at the lower left corner of the video frame below. (If you cannot play the video, you may need to update to the latest version of Adobe Flash Player.)
View Transcript Fragile X syndrome is the most common inherited cause of intellectual disability, second only to Down syndrome in terms of known causes of intellectual disability. I have a number of specialty clinics, particularly for fragile X, but also I see a lot of patients with neurogenetic and neurodevelopmental disabilities.
We’re viewed as a center that knows a lot about fragile X. It’s helpful for families to come in and just talk to somebody that has seen it before.
I’ve really wanted to study the brain for a long time. In fact in seventh grade, I remember sitting there thinking, “You know I really wish I knew what was going on in the brain chemically and in the cells that is allowing me to think these thoughts right now.” That was my goal right from when I was a — before I was a teenager even — and I think now I’m really working on what I wanted to work on.
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