A5012579677- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- RNA Research and Splicing
- RNA modifications and cancer
- Muscle Physiology and Disorders
- Genetics and Neurodevelopmental Disorders
- Genomics and Chromatin Dynamics
- Epilepsy research and treatment
- Peripheral Neuropathies and Disorders
- Genetic Neurodegenerative Diseases
- RNA regulation and disease
- Lipid metabolism and disorders
- Cerebral Venous Sinus Thrombosis
- Biomedical Ethics and Regulation
- Folate and B Vitamins Research
- Growth Hormone and Insulin-like Growth Factors
- Pharmacological Effects and Toxicity Studies
- Nuclear Structure and Function
- Craniofacial Disorders and Treatments
- Pituitary Gland Disorders and Treatments
- Erythrocyte Function and Pathophysiology
- Mitochondrial Function and Pathology
- Retinal and Optic Conditions
- Myasthenia Gravis and Thymoma
- Metabolism and Genetic Disorders
Texas Children's Hospital
2016-2024
Baylor College of Medicine
2006-2024
With the increasing number of genomic sequencing studies, hundreds genes have been implicated in neurodevelopmental disorders (NDDs). The rate gene discovery far outpaces our understanding genotype-phenotype correlations, with clinical characterization remaining a bottleneck for NDDs. Most disease-associated Mendelian are members families, and we hypothesize that those related molecular function share presentations.We tested hypothesis by considering families multiple an enrichment de novo...
Background The diagnosis of uncommon pediatric neuromuscular disease (NMD) is challenging due to genetic and phenotypic heterogeneity, yet important guide treatment, prognosis, recurrence risk. Patients with diagnostically presentations typically undergo extensive testing variable molecular diagnostic yield. Given the advancement in next generation sequencing (NGS), we investigated value clinical whole exome (ES) NMD. Methods A retrospective cohort study 106 NMD patients a combination ES,...
Loss of function PIEZO 2 mutations have been linked to distal arthrogryposis with impaired proprioception and touch (DAIPT). The key features this disease include hypotonia at birth, breathing difficulty, scoliosis, hand feet deformities, sensory ataxia, vibration. Causal association central nervous system manifestations has not established. We present a case young woman DAIPT, who in addition typical also developed epilepsy. A 20-year-old presented symptoms feeding hypotonia, weakness,...
Abstract Exome sequencing (ES) has revolutionized rare disease management, yet only ~25%–30% of patients receive a molecular diagnosis. A limiting factor is the quality available phenotypic data. Here, we describe how deep clinicopathological phenotyping yielded diagnosis for 19‐year‐old proband with muscular dystrophy and negative clinical ES. Deep analysis identified two critical data points: (1) absence emerin protein in muscle biopsy (2) features consistent Emery‐Dreifuss dystrophy....
Abstract Growth hormone (GH) is often prescribed in pediatric populations with short stature and associated several potential adverse events. One underrecognized event its effect on intracerebral vasculature, concern for ability to cause cerebrovascular accident. We present a case of presumed transient ischemic attack the setting chronic GH administration idiopathic syndrome. propose pathogenic mechanisms vessel stenosis. hope this becomes resource clinicians other healthcare providers when...
Objective: Paroxysmal kinesigenic dyskinesia (PKD) has classically been treated with carbamazepine and phenytoin in children adults. Side effect profiles of these drugs limit their use, especially those that require prolonged treatment. Scant literature exists regarding dosing regimens efficacy other antiepileptics for this disorder. We describe a series nine patients PKD effectively low doses oxcarbazepine. Background: dyskinesias are rare group conditions manifest as abnormal involuntary...
Abstract In parallel to the spread of novel severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2), there has been growing recognition that active SARS-CoV-2 infection potential effect both peripheral and central nervous systems. When it comes vaccine, however, reporting more uncertain. As vaccination rate risen, we have seen a rise in rare neurological complications thought be associated with including transverse myelitis, Guillain–Barre syndrome, optic neuritis, Tolosa–Hunt syndrome....
Objective: To expand the spectrum of phenotypes in patients with Spinal Muscular Atrophy Type I Background: (SMA) is most common infant motor neuron disease and a leading cause death. Those SMA present symptoms within first 6 months never roll, sit, walk, run. Death expected before age 2 years, one paper demonstrating some survival past 4 years respiratory intervention. Methods: The medical records our were reviewed for pertinent findings associated SMA. Results: We have identified series...
A 9-month-old male infant was evaluated for sudden onset of paroxysmal episodes forced, conjugate upward eye deviation. Extensive in-hospital evaluation including electrophysiology and neuroimaging studies were reassuring against seizures or a structural abnormality. Given the clinical presentation intermittent deviations, downbeating saccades, associated ataxia, typical development, diagnosis tonic upgaze (PTU) with ataxia made. Targeted genetic testing
Objective: To describe a positive response to nusinersen in patient with motor neuron disease and 1 copy of SMN1. Background: Most spinal muscular atrophy (SMA) cases are caused by biallelic deletions exon 7. Remaining involve an 7 deletion pathogenic sequence variant. The number SMN2 copies modifies the phenotype. Nusinersen, antisense oligonucleotide, induces alternating splicing SMN2, causing increased production SMN protein. Design/Methods: is 5-year-old who presented at 3 months age...