Barbara Hallinan
A5033934218- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Acute Ischemic Stroke Management
- Lysosomal Storage Disorders Research
- RNA regulation and disease
- Cerebrovascular and Carotid Artery Diseases
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- Glycogen Storage Diseases and Myoclonus
- Neonatal and fetal brain pathology
- Pharmacological Effects and Toxicity Studies
- Congenital Heart Disease Studies
- Infectious Encephalopathies and Encephalitis
- Venous Thromboembolism Diagnosis and Management
- Genomic variations and chromosomal abnormalities
- ATP Synthase and ATPases Research
- Endoplasmic Reticulum Stress and Disease
- Sleep and related disorders
- Peroxisome Proliferator-Activated Receptors
- Long-Term Effects of COVID-19
- Hereditary Neurological Disorders
- Intracerebral and Subarachnoid Hemorrhage Research
Cincinnati Children's Hospital Medical Center
2012-2024
University of Cincinnati
2006-2024
University of Cincinnati Medical Center
2019-2023
Foothills Medical Centre
2018
Erasmus MC
2018
Maastricht University
2018
University Medical Center
2018
University Hospital and Clinics
2018
Amsterdam UMC Location University of Amsterdam
2018
The Royal Melbourne Hospital
2017-2018
Objective To determine the cause and course of a novel syndrome with progressive encephalopathy brain atrophy in children. Methods Clinical whole-exome sequencing was performed for global developmental delay intellectual disability; some patients also had spastic paraparesis evidence clinical regression. Six were identified de novo missense mutations kinesin gene KIF1A. The predicted functional disruption these assessed silico to compare calculated conformational flexibility estimated...
To provide an overview of clinical and MRI characteristics the different variants leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) identify possible differentiating features.We performed international multi-institutional, cross-sectional observational study in patients genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians retrospective chart review.We included 204 classic MLC, 187 whom had recessive mutations MLC1 (MLC1...
Abstract Vacuolar-type H+-ATPase (V-ATPase) is a multimeric complex present in variety of cellular membranes that acts as an ATP-dependent proton pump and plays key role pH homeostasis intracellular signalling pathways. In humans, 22 autosomal genes encode for redundant set subunits allowing the composition diverse V-ATPase complexes with specific properties expression. Sixteen have been linked to human disease. Here we describe 26 patients harbouring 20 distinct pathogenic de novo missense...
Clinicians and researchers must contextualize a patient's genetic variants against population-based references with detailed phenotyping. We sought to establish globally scalable technology, policy, procedures for sharing biosamples associated genomic phenotypic data on broadly consented cohorts, across sites of care.Three the nation's leading children's hospitals launched Genomic Research Innovation Network (GRIN), federated information technology infrastructure, harmonized biobanking...
We report the clinical, radiological, laboratory, and neuropathological findings in support of first diagnosis lethal, small-vessel cerebral vasculitis triggered by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) a pediatric patient.A previously healthy, eight-year-old Hispanic girl presented with subacute left-sided weakness two weeks after mild febrile illness. SARS-CoV-2 nasopharyngeal swab was positive. Magnetic resonance imaging revealed an enhancing right frontal lobe...
ABSTRACT Aim To describe the clinical course and pathological diagnosis of a 12‐year‐old female who presented with an acute syndrome right hemispheric epilepsy cortical dysfunction brain MRI demonstrating atrophy left cerebral cerebellar hemispheres. Results The patient occasional partial seizures consisting calf sensation followed by leg clonic jerking. Initial showed T2 hyperintensity in parietal region. After six months, seizure frequency increased semiology evolved to include frequent...
Narcolepsy-cataplexy is an uncommon sleep disorder which may present in childhood. We report a case of 8-year-old presenting with narcolepsy-cataplexy following streptococcal infection. Autoimmune etiology for narcolepsy has been suggested. In our patient increased anti-streptolysin O and anti-DNAse B titers were noted. As suggested by recent cases, the infection was likely trigger onset this genetically predisposed child. The initially diagnosed as having Sydenham chorea due to motor...
Leigh syndrome, due to a dysfunction of mitochondrial energy metabolism, is genetically heterogeneous and progressive neurologic disorder that usually occurs in infancy childhood. Its clinical presentation neuroimaging findings can be variable, especially early the course disease. This report presents patient with infantile syndrome who had atypical radiologic on serial studies severe involvement cervical spinal cord brainstem injury thalami basal ganglia occurring only late course....
We report a novel presentation of childhood cerebral X-linked adrenoleukodystrophy: status epilepticus followed by abrupt and catastrophic neurologic deterioration.A description the clinical presentation, laboratory evaluation, imaging findings leading to diagnosis adrenoleukodystrophy.A 3-year-old male with prior history autism presented fever, diarrhea, requiring pentobarbital coma. Admission labs were notable only for glucose level 22 mg/dL, which stabilized after correction. The child...
Despite advances in next generation sequencing (NGS), genetic diagnoses remain elusive for many patients with neurologic syndromes. Long-read (LRS) and optical genome mapping (OGM) technologies improve upon existing capabilities the detection interpretation of structural variation repetitive DNA, on a single haplotype, while also providing enhanced breakpoint resolution. We performed LRS OGM two known chromosomal rearrangements inconclusive Sanger or NGS. The first patient, who had epilepsy...
Creatine transporter deficiency is an X-linked genetic disorder caused by a variant in the SLC6A8 gene located on X chromosome (Xq28). This condition varies severity with features often including intellectual disabilities, speech delay, autistic features, attention deficit hyperactivity and gastrointestinal issues. While creatine primarily affects males, females may also demonstrate severe phenotypes. However, screening of can be especially difficult as urine creatine/creatinine screenings...
Exome sequencing (ES) became clinically available in 2011 and promised an agnostic, unbiased next-generation (NGS) platform for patients with symptoms believed to have a genetic etiology. The diagnostic yield of ES has been estimated be between 25-40% may higher specific clinical scenarios. Those who remain undiagnosed no molecular findings interest on ES, variants uncertain significance genes that are linked human disease, or candidate not definitively tied disease. Recent evidence suggests...