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....
- Developmental interneuron subtype deficits after targeted loss of ArxEric D Marsh
Department of Pediatrics, Children s Hospital of Philadelphia, Philadelphia, PA, USA
BMC Neurosci 17:35. 2016..Previous studies have examined the effect of germline loss of Arx, or targeted mutations in Arx, on interneuron development. We now present the effect of conditional loss of Arx on interneuron development...
- 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...
- CDKL5 and ARX mutations in males with early-onset epilepsyGhayda M Mirzaa
Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research, Seattle Children s Research Institute, Seattle, Washington 98101, USA
Pediatr Neurol 48:367-77. 2013..Our large dataset therefore expands on the number of reported males with CDKL5 mutations and highlights that aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys...
- 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...
- Conditional Loss of Arx From the Developing Dorsal Telencephalon Results in Behavioral Phenotypes Resembling Mild Human ARX MutationsJacqueline C Simonet
Cell and Molecular Biology Graduate Group, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
Cereb Cortex 25:2939-50. 2015....
- Spatiotemporal Mapping of Interictal Spike Propagation: A Novel Methodology Applied to Pediatric Intracranial EEG RecordingsSamuel B Tomlinson
Department of Pediatrics, Division of Child Neurology, Children s Hospital of Philadelphia, Philadelphia, PA, USA School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, NY, USA
Front Neurol 7:229. 2016..e., spatial autocorrelation) among Sz-Free patients compared with Sz-Persist patients. The pathophysiological basis and clinical implications of these findings are considered...
- 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...
- Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsyKaren L Skjei
Perelman School of Medicine, University of Pennsylvania, Philadelphia
J Neurosurg Pediatr 16:668-74. 2015....
- 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...
- GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel BlockersDong Li
Center for Applied Genomics, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
Am J Hum Genet 99:802-816. 2016..This work further demonstrates the value of functionally evaluating a mutation, enabling mechanistic understanding and therapeutic modeling to realize precision medicine for epilepsy...
- Confirming an expanded spectrum of SCN2A mutations: a case seriesDena Matalon
Division of Child Neurology, Departments of Pediatrics and Neurology, Children s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA
Epileptic Disord 16:13-8. 2014..While a causal role for these mutations cannot be directly established, these findings contribute to growing evidence that mutation of SCN2A is associated with a range of epilepsy phenotypes including severe infantile-onset epilepsy. ..
- 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...