A5005396796- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Genetic Neurodegenerative Diseases
- Neonatal and fetal brain pathology
- RNA regulation and disease
- Muscle Physiology and Disorders
- Infectious Encephalopathies and Encephalitis
- Cardiovascular Syncope and Autonomic Disorders
- Cerebrospinal fluid and hydrocephalus
- Fetal and Pediatric Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Obsessive-Compulsive Spectrum Disorders
- Diet and metabolism studies
- Neuroscience and Neuropharmacology Research
- Tuberous Sclerosis Complex Research
- Alcoholism and Thiamine Deficiency
- Genomic variations and chromosomal abnormalities
- Assisted Reproductive Technology and Twin Pregnancy
- Botulinum Toxin and Related Neurological Disorders
- Cardiac Arrhythmias and Treatments
- Neonatal Respiratory Health Research
- DNA Repair Mechanisms
- Liver Disease and Transplantation
Gillette Children's Specialty Healthcare
2008-2020
Park Nicollet Clinic
1992-2006
University of Minnesota
1984-2004
Noran Neurological Clinic
2002-2004
University of Minnesota System
2001
University of Minnesota, Duluth
2000
Abbott Northwestern Hospital
1997
Minneapolis Institute of Arts
1985-1996
Temple University
1985-1990
Hartford Financial Services (United States)
1989
<b><i>Article abstract</i></b> A patient with juvenile Huntington's disease (HD) of probable maternal inheritance is reported. The expanded IT-15 allele was only detected the use modified PCR and Southern transfer techniques, which showed a CAG trinucleotide repeat expansion approximately 250 repeats—the largest reported within huntingtin gene. This case emphasizes need for communication between diagnostic laboratory clinician to define molecular genetics unusual cases.
The concurrence of gelastic (laughing) seizures and precocious puberty has been reported in 18 patients, including 2 described here. At least 10 patients had hypothalamic hamartomas. Improvements cerebral imaging permit noninvasive diagnosis. Surgical intervention seven these was little diagnostic or therapeutic benefit.
Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation glycine in body fluids and various neurological symptoms. NKH caused deficiency the cleavage multi-enzyme system with three specific components encoded GLDC, AMT, GCSH. We undertook first comprehensive screening for GCSH mutations 69 families (56, six, seven neonatal, infantile, late-onset type NKH, respectively). GLDC or AMT were identified 75% neonatal 83% infantile families, but not NKH. No...
Infantile- and juvenile-onset spinal cerebellar ataxia (SCA) is associated with expansion of 130 to more than 200 CAG-repeats in the SCA2 SCA7 genes. Routine clinical assays for SCA7, which use polymerase chain reaction (PCR) denaturing PAGE (polyacrylamide gel electrophoresis), will not reliably detect such large expansions. An assay based on separation PCR products an agarose gel, blotting, hybridization a (CAG)6 oligonucleotide probe was used test DNA from individuals 10 years age who had...
Baraitser–Winter cerebrofrontofacial syndrome is caused by heterozygous missense mutations in one of the two ubiquitous cytoplasmic actin‐encoding genes ACTB and ACTG1 . Recently, we characterized large cohort 41 patients presenting with this condition. Our series contained 34 only nine mutations. Here, report on seven unrelated six –four novel previously reported. Only was clinically diagnosed disorder underwent ACTB/ACTG1 targeted sequencing, four were screened as a part lissencephaly...
Occasionally, but more often than has been reported, true epileptic seizures are triggered by non-epileptic syncopes. This combination of syncope and seizure called an anoxic-epileptic seizure. A few examples such seizures, including the induction status epilepticus, have reported in books medical journals, no video-recordings published. We show here home video recordings first three known transition from triggering anoxic seizure, to subsequent In two children, a neurally-mediated syncope,...