Genomes and Genes
Eric D Marsh
Affiliation: The Children's Hospital of Philadelphia
- Migrating partial seizures in infancy: expanding the phenotype of a rare seizure syndromeEric Marsh
The Division of Neurology and the Pediatric Regional Epilepsy Program of The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia 19104, USA
Epilepsia 46:568-72. 2005..We report six new patients and the prospect of a more optimistic developmental outcome...
- Identification of Arx transcriptional targets in the developing basal forebrainCarl T Fulp
Neuroscience Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Hum Mol Genet 17:3740-60. 2008....
- Interictal EEG spikes identify the region of electrographic seizure onset in some, but not all, pediatric epilepsy patientsEric D Marsh
Division of Child Neurology, Department of Neurology and Pediatrics, Children s Hospital of Philadelphia, The University of Pennsylvania, Philadelphia, PA 19104, USA
Epilepsia 51:592-601. 2010..Indeed, past studies suggest an inconsistent relationship between IED and seizure-onset location, although these studies were based upon relatively short EEG epochs...
- Developing an animal model for infantile spasms: pathogenesis, problems and progressEric D Marsh
Department of Neurology, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Dis Model Mech 2:329-35. 2009..Finally, we will discuss the limitations of these models and the potential avenues for future research on IS...
- Convulsive and nonconvulsive status epilepticus in childrenNicholas S Abend
Eric Marsh, MD, PhD Division of Neurology, Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
Curr Treat Options Neurol 11:262-72. 2009..This review evaluates treatment protocols for acute SE, prolonged SE, and nonconvulsive SE, including some management strategies that use newer anticonvulsants...
- Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous femalesEric Marsh
Abramson Research Center, Children s Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA
Brain 132:1563-76. 2009..Given the frequency of ARX mutations in patients with infantile spasms and related disorders, our data unveil a new model for further understanding the pathogenesis of these disorders...
- FACS-array gene expression analysis during early development of mouse telencephalic interneuronsEric D Marsh
Division of Neurology, Children s Hospital of Philadelphia and The University of Pennsylvania, Philadelphia 19130, USA
Dev Neurobiol 68:434-45. 2008..In addition, these data can be mined to uncover numerous novel genes involved in the generation of interneurons and may suggest genes/pathways potentially involved in a number of human neurological disorders...
- Seizures and antiepileptic drugs: does exposure alter normal brain development?Eric D Marsh
Division of Child Neurology and Pediatric Regional Epilepsy Program, Children s Hospital of Philadelphia, and Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Epilepsia 47:1999-2010. 2006..More research, both clinical and experimental, is needed before changes in current clinical practice, based on the scientific data, can be recommended...
- MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathwaysAlex R Paciorkowski
Department of Neurology, Pediatrics, and Biomedical Genetics, Center for Neural Development and Disease, University of Rochester Medical Center, 601 Elmwood Ave, Rochester, NY 14642, USA
Neurogenetics 14:99-111. 2013..Given interactions with several key neurodevelopmental genes such as ARX, FMR1, MECP2, and TBR1, it appears that MEF2C plays a role in several developmental stages of both dorsal and ventral neuronal cell types...
- Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in miceI Ting Judy Wang
Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA
Proc Natl Acad Sci U S A 109:21516-21. 2012..These data demonstrate that CDKL5 regulates signal transduction pathways and mediates autistic-like phenotypes and together establish a causal role for Cdkl5 loss-of-function in neurodevelopmental disorders...
- Discrete gamma oscillations identify the seizure onset zone in some pediatric epilepsy patientsJay R Gupta
Department of Neurology and Bioengineering, The University of Pennsylvania, Philadelphia, PA 19104, USA
Conf Proc IEEE Eng Med Biol Soc 2011:3095-8. 2011..Further research is required to help determine which patients would benefit from this technique...
- Comparison of novel computer detectors and human performance for spike detection in intracranial EEGMerritt W Brown
Division of Child Neurology, Children s Hospital of Philadelphia, and Department of Neurology and Bioengineering, University of Pennsylvania, Philadelphia, PA 19104, USA
Clin Neurophysiol 118:1744-52. 2007..Accurate automated spike detectors are necessary for understanding the role of spikes in epileptogenesis...
- Focal cortical dysplasia is more common in boys than in girlsXilma R Ortiz-Gonzalez
Department of Pediatrics and Neurology, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Stanford, CA 94305, USA
Epilepsy Behav 27:121-3. 2013..5 (95% CI, 1.34 to 4.62) for male sex. None of the other etiologies had a male sex predominance. Future studies could examine the biological relevance and potential genetic and pathophysiological mechanisms of this observation...
- Delayed myelination in an intrauterine growth retardation model is mediated by oxidative stress upregulating bone morphogenetic protein 4Mary V Reid
Department of Neurology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
J Neuropathol Exp Neurol 71:640-53. 2012..Together, these findings suggest that IUGR results in delayed myelination through the generation of oxidative stress that leads to BMP4 upregulation...
- Human and automated detection of high-frequency oscillations in clinical intracranial EEG recordingsAndrew B Gardner
Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
Clin Neurophysiol 118:1134-43. 2007..Automated tools are required to characterize these events. We present a new algorithm tuned to detect HFOs from 30 to 85 Hz, and validate it against human expert electroencephalographers...