Publications by authors named "Eric D Marsh"

60Publications

X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder.

Neurobiol Dis 2020 Nov 13;148:105176. Epub 2020 Nov 13.

Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2020.105176DOI Listing
November 2020

Phenotypic features in MECP2 duplication syndrome: Effects of age.

Am J Med Genet A 2020 Nov 10. Epub 2020 Nov 10.

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

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http://dx.doi.org/10.1002/ajmg.a.61956DOI Listing
November 2020

Novel Missense Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy.

Int J Mol Sci 2020 Aug 31;21(17). Epub 2020 Aug 31.

Ion Channels and Disease Group, The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC 3052, Australia.

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http://dx.doi.org/10.3390/ijms21176333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503748PMC
August 2020

PIK3R2/Pik3r2 Activating Mutations Result in Brain Overgrowth and EEG Changes.

Ann Neurol 2020 Dec 28;88(6):1077-1094. Epub 2020 Sep 28.

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1002/ana.25890DOI Listing
December 2020

Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms.

Exp Neurol 2020 Oct 22;332:113388. Epub 2020 Jun 22.

Division of Child Neurology and CHOP Research Institute, Children's Hospital of Philadelphia, United States of America; Department of Neuroscience and Pediatrics, University of Pennsylvania Perelman School of Medicine, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2020.113388DOI Listing
October 2020

Evoked Potentials and EEG Analysis in Rett Syndrome and Related Developmental Encephalopathies: Towards a Biomarker for Translational Research.

Front Integr Neurosci 2020 28;14:30. Epub 2020 May 28.

Division of Neurology and Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

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http://dx.doi.org/10.3389/fnint.2020.00030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7271894PMC
May 2020

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.

Ann Neurol 2020 Aug 29;88(2):396-406. Epub 2020 Jun 29.

Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ana.25797DOI Listing
August 2020

Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder.

JCI Insight 2019 11 1;4(21). Epub 2019 Nov 1.

Division of Child Neurology, Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1172/jci.insight.131961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6948765PMC
November 2019

Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder.

Nat Commun 2019 06 14;10(1):2655. Epub 2019 Jun 14.

Department of Neuroscience, Neurology, and Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1038/s41467-019-10689-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6572855PMC
June 2019

Severity Assessment in CDKL5 Deficiency Disorder.

Pediatr Neurol 2019 08 27;97:38-42. Epub 2019 Mar 27.

Children's Hospital Colorado and University of Colorado School of Medicine Aurora, Colorado; Department of Pediatrics, Aurora, Colorado; Department of Pharmacology, Aurora, Colorado; Department of Neurology, Aurora, Colorado; Department of Otolaryngology, Aurora, Colorado. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659999PMC
August 2019

Reproducibility of interictal spike propagation in children with refractory epilepsy.

Epilepsia 2019 05 21;60(5):898-910. Epub 2019 Apr 21.

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1111/epi.14720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6488404PMC
May 2019

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

JAMA Netw Open 2019 04 5;2(4):e192129. Epub 2019 Apr 5.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1001/jamanetworkopen.2019.2129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481455PMC
April 2019

Normal Development of the Perineuronal Net in Humans; In Patients with and without Epilepsy.

Neuroscience 2018 08 7;384:350-360. Epub 2018 Jun 7.

Division of Child Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States; Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, United States. Electronic address:

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http://dx.doi.org/10.1016/j.neuroscience.2018.05.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6062204PMC
August 2018

Alterations of network synchrony after epileptic seizures: An analysis of post-ictal intracranial recordings in pediatric epilepsy patients.

Epilepsy Res 2018 07 5;143:41-49. Epub 2018 Apr 5.

Department of Pediatrics, Division of Child Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, United States.

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http://dx.doi.org/10.1016/j.eplepsyres.2018.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003130PMC
July 2018

Epileptic Encephalopathies as Neurodegenerative Disorders.

Adv Neurobiol 2017 ;15:295-315

Division of Child Neurology, The Children's Hospital of Philadelphia, 34th St and Civic Center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/978-3-319-57193-5_11DOI Listing
November 2018

Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

Curr Neurol Neurosci Rep 2017 02;17(2):10

Division of Neurology, The Children's Hospital of Philadelphia, 34th St and Civic Center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s11910-017-0720-7DOI Listing
February 2017

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in .

Neurol Genet 2017 Feb 1;3(1):e130. Epub 2017 Feb 1.

Section of Biochemical Genetics (R.C.A.-N., N.S.), Division of Human Genetics (R.C.A.-N., M.A.D., A.B.W.), Department of Pathology and Laboratory Medicine (L.K.C., A.B.S., A.N.), Division of Child Neurology (E.D.M.), Children's Hospital of Philadelphia, PA; Department of Pediatrics (R.C.A.-N., N.S., M.A.D., E.D.M.) and Department of Neurology (E.D.M.), Perelman School of Medicine, and Department of Clinical Pathology (L.K.C., A.B.S.), University of Pennsylvania, Philadelphia; GeneDx (J.J.), Gaithersburg, MD; Neuroregeneration and Stem Cell Programs (G.K.E.U., T.M.D., V.L.D.), Institute for Cell Engineering; Departments of Neurology (G.K.E.U., T.M.D.), Solomon H. Snyder Department of Neuroscience (T.M.D., V.L.D.), Pharmacology and Molecular Sciences (T.M.D., V.L.D.), Physiology (V.L.D.), and Public Health (E.M.), Johns Hopkins University, Baltimore, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289017PMC
February 2017

Interictal network synchrony and local heterogeneity predict epilepsy surgery outcome among pediatric patients.

Epilepsia 2017 03 6;58(3):402-411. Epub 2017 Feb 6.

Division of Child Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.

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http://dx.doi.org/10.1111/epi.13657DOI Listing
March 2017

Spatiotemporal Mapping of Interictal Spike Propagation: A Novel Methodology Applied to Pediatric Intracranial EEG Recordings.

Front Neurol 2016 19;7:229. Epub 2016 Dec 19.

Department of Pediatrics, Division of Child Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.3389/fneur.2016.00229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165024PMC
December 2016

Cannabidiol as a Potential Treatment for Febrile Infection-Related Epilepsy Syndrome (FIRES) in the Acute and Chronic Phases.

J Child Neurol 2017 01 29;32(1):35-40. Epub 2016 Sep 29.

1 Division of Child Neurology, Pediatric Regional Epilepsy Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1177/0883073816669450DOI Listing
January 2017

Developmental interneuron subtype deficits after targeted loss of Arx.

BMC Neurosci 2016 06 10;17(1):35. Epub 2016 Jun 10.

Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1186/s12868-016-0265-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902966PMC
June 2016

Generation of a mouse model of atypical teratoid/rhabdoid tumor of the central nervous system through combined deletion of Snf5 and p53.

Cancer Res 2015 Nov 11;75(21):4629-39. Epub 2015 Sep 11.

Department of Pathology and Laboratory Medicine, Division of Cancer Pathobiology, The Children's Hospital of Philadelphia, Research Institute, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1158/0008-5472.CAN-15-0874DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4631617PMC
November 2015

Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy.

J Neurosurg Pediatr 2015 Dec 4;16(6):668-74. Epub 2015 Sep 4.

Perelman School of Medicine, University of Pennsylvania, Philadelphia;

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http://dx.doi.org/10.3171/2015.5.PEDS14551DOI Listing
December 2015

A toolbox for spatiotemporal analysis of voltage-sensitive dye imaging data in brain slices.

PLoS One 2014 26;9(9):e108686. Epub 2014 Sep 26.

Department of Pediatrics, Division of Pediatric Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America; Department of Neurology, Division of Pediatric Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0108686PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4178182PMC
January 2016

mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

Ann Clin Transl Neurol 2014 Mar;1(3):190-198

NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/acn3.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019449PMC
March 2014

Conditional Loss of Arx From the Developing Dorsal Telencephalon Results in Behavioral Phenotypes Resembling Mild Human ARX Mutations.

Cereb Cortex 2015 Sep 2;25(9):2939-50. Epub 2014 May 2.

Division of Child Neurology, Children's Hospital of Philadelphia, Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA Current address: Division of Child Neurology, Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19072, USA.

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http://dx.doi.org/10.1093/cercor/bhu090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537438PMC
September 2015

Confirming an expanded spectrum of SCN2A mutations: a case series.

Epileptic Disord 2014 Mar;16(1):13-8

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.

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http://dx.doi.org/10.1684/epd.2014.0641DOI Listing
March 2014

Arx is required for specification of the zona incerta and reticular nucleus of the thalamus.

J Neuropathol Exp Neurol 2014 Mar;73(3):253-61

From the Department of Pathology, Children's Hospital of Philadelphia (CNS); Penn-PORT Program (CNS), and Department of Cell and Developmental Biology (JCS), University of Pennsylvania; and Department of Neurology, Children's Hospital of Philadelphia (EDM), Philadelphia, Pennsylvania; and Department of Pathology, Brigham Women and Children's Hospital, Boston, Massachusetts (JAG).

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http://dx.doi.org/10.1097/NEN.0000000000000048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038102PMC
March 2014

CDKL5 and ARX mutations in males with early-onset epilepsy.

Pediatr Neurol 2013 May;48(5):367-77

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.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.12.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3742321PMC
May 2013

Focal cortical dysplasia is more common in boys than in girls.

Epilepsy Behav 2013 Apr 13;27(1):121-3. Epub 2013 Feb 13.

Department of Pediatrics and Neurology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1016/j.yebeh.2012.12.035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930197PMC
April 2013

Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.

Proc Natl Acad Sci U S A 2012 Dec 10;109(52):21516-21. Epub 2012 Dec 10.

Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1216988110
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http://dx.doi.org/10.1073/pnas.1216988110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535652PMC
December 2012

Fishing for the mechanisms causing febrile seizures: employing a novel model to uncover the physiological generators of seizures with fever.

Authors:
Eric D Marsh

Exp Neurol 2013 Feb 22;240:108-11. Epub 2012 Nov 22.

Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.expneurol.2012.11.016DOI Listing
February 2013

Discrete gamma oscillations identify the seizure onset zone in some pediatric epilepsy patients.

Annu Int Conf IEEE Eng Med Biol Soc 2011 ;2011:3095-8

Department of Neurology and Bioengineering, The University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://ieeexplore.ieee.org/document/6090845/
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http://dx.doi.org/10.1109/IEMBS.2011.6090845DOI Listing
June 2012

Leaving tissue associated with infrequent intracranial EEG seizure onsets is compatible with post-operative seizure freedom.

J Pediatr Epilepsy 2012 ;1(4):211-219

Division of Pediatric Neurology, The Children's Hospital of Philadelphia, The Pearlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA ; Department of Neurology, The Pearlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.3233/PEP-12033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930198PMC
January 2012

Febrile status epilepticus: current state of clinical and basic research.

Semin Pediatr Neurol 2010 Sep;17(3):150-4

Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S107190911000063
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http://dx.doi.org/10.1016/j.spen.2010.06.004DOI Listing
September 2010

Interictal EEG spikes identify the region of electrographic seizure onset in some, but not all, pediatric epilepsy patients.

Epilepsia 2010 Apr 22;51(4):592-601. Epub 2009 Sep 22.

Division of Child Neurology, Department of Neurology and Pediatrics, Children's Hospital of Philadelphia, The University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02306.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2907216PMC
April 2010

Developing an animal model for infantile spasms: pathogenesis, problems and progress.

Dis Model Mech 2009 Jul-Aug;2(7-8):329-35

Department of Neurology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dmm.biologists.org/cgi/doi/10.1242/dmm.001883
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http://dx.doi.org/10.1242/dmm.001883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2953562PMC
October 2009

Identification of Arx transcriptional targets in the developing basal forebrain.

Hum Mol Genet 2008 Dec 16;17(23):3740-60. Epub 2008 Sep 16.

Neuroscience Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://hmg.oxfordjournals.org/content/17/23/3740.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddn271
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http://dx.doi.org/10.1093/hmg/ddn271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2581427PMC
December 2008

FACS-array gene expression analysis during early development of mouse telencephalic interneurons.

Dev Neurobiol 2008 Mar;68(4):434-45

Division of Neurology, Children's Hospital of Philadelphia and the University of Pennsylvania, Philadelphia 19130, USA.

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http://dx.doi.org/10.1002/dneu.20602DOI Listing
March 2008

Comparison of novel computer detectors and human performance for spike detection in intracranial EEG.

Clin Neurophysiol 2007 Aug 1;118(8):1744-52. Epub 2007 Jun 1.

Division of Child Neurology, Children's Hospital of Philadelphia, and Department of Neurology and Bioengineering, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.clinph.2007.04.017DOI Listing
August 2007

Seizures and antiepileptic drugs: does exposure alter normal brain development?

Epilepsia 2006 Dec;47(12):1999-2010

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.

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http://dx.doi.org/10.1111/j.1528-1167.2006.00894.xDOI Listing
December 2006