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Items: 1 to 50 of 55

1.

Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.

Kang SK, Vanoye CG, Misra SN, Echevarria DM, Calhoun JD, O'Connor JB, Fabre KL, McKnight D, Demmer L, Goldenberg P, Grote LE, Thiffault I, Saunders C, Strauss KA, Torkamani A, van der Smagt J, van Gassen K, Carson RP, Diaz J, Leon E, Jacher JE, Hannibal MC, Litwin J, Friedman NR, Schreiber A, Lynch B, Poduri A, Marsh ED, Goldberg EM, Millichap JJ, George AL Jr, Kearney JA.

Ann Neurol. 2019 Oct 10. doi: 10.1002/ana.25607. [Epub ahead of print]

PMID:
31600826
2.

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

Ahrens-Nicklas RC, Tecedor L, Hall A, Lysenko E, Cohen AS, Davidson BL, Marsh ED.

JCI Insight. 2019 Oct 1. pii: 131961. doi: 10.1172/jci.insight.131961. [Epub ahead of print]

3.

Synthetic aperture magnetometry and excess kurtosis mapping of Magnetoencephalography (MEG) is predictive of epilepsy surgical outcome in a large pediatric cohort.

Gofshteyn JS, Le T, Kessler S, Kamens R, Carr C, Gaetz W, Bloy L, Roberts TPL, Schwartz ES, Marsh ED.

Epilepsy Res. 2019 Sep;155:106151. doi: 10.1016/j.eplepsyres.2019.106151. Epub 2019 Jun 17.

PMID:
31247475
4.

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

Tang S, Terzic B, Wang IJ, Sarmiento N, Sizov K, Cui Y, Takano H, Marsh ED, Zhou Z, Coulter DA.

Nat Commun. 2019 Jun 14;10(1):2655. doi: 10.1038/s41467-019-10689-w.

5.

Severity Assessment in CDKL5 Deficiency Disorder.

Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA.

Pediatr Neurol. 2019 Aug;97:38-42. doi: 10.1016/j.pediatrneurol.2019.03.017. Epub 2019 Mar 27.

PMID:
31147226
6.

Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results.

Laux LC, Bebin EM, Checketts D, Chez M, Flamini R, Marsh ED, Miller I, Nichol K, Park Y, Segal E, Seltzer L, Szaflarski JP, Thiele EA, Weinstock A; CBD EAP study group.

Epilepsy Res. 2019 Aug;154:13-20. doi: 10.1016/j.eplepsyres.2019.03.015. Epub 2019 Mar 25.

7.

Reproducibility of interictal spike propagation in children with refractory epilepsy.

Tomlinson SB, Wong JN, Conrad EC, Kennedy BC, Marsh ED.

Epilepsia. 2019 May;60(5):898-910. doi: 10.1111/epi.14720. Epub 2019 Apr 21.

PMID:
31006860
8.

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

Balciuniene J, DeChene ET, Akgumus G, Romasko EJ, Cao K, Dubbs HA, Mulchandani S, Spinner NB, Conlin LK, Marsh ED, Goldberg E, Helbig I, Sarmady M, Abou Tayoun A.

JAMA Netw Open. 2019 Apr 5;2(4):e192129. doi: 10.1001/jamanetworkopen.2019.2129.

9.

The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.

Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, Percy AK.

Am J Med Genet B Neuropsychiatr Genet. 2019 Jan;180(1):55-67. doi: 10.1002/ajmg.b.32707. Epub 2018 Dec 7.

10.

Long-term safety and treatment effects of cannabidiol in children and adults with treatment-resistant epilepsies: Expanded access program results.

Szaflarski JP, Bebin EM, Comi AM, Patel AD, Joshi C, Checketts D, Beal JC, Laux LC, De Boer LM, Wong MH, Lopez M, Devinsky O, Lyons PD, Zentil PP, Wechsler R; CBD EAP study group.

Epilepsia. 2018 Aug;59(8):1540-1548. doi: 10.1111/epi.14477. Epub 2018 Jul 12.

11.

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

Rogers SL, Rankin-Gee E, Risbud RM, Porter BE, Marsh ED.

Neuroscience. 2018 Aug 1;384:350-360. doi: 10.1016/j.neuroscience.2018.05.039. Epub 2018 Jun 7.

12.

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

Tomlinson SB, Khambhati AN, Bermudez C, Kamens RM, Heuer GG, Porter BE, Marsh ED.

Epilepsy Res. 2018 Jul;143:41-49. doi: 10.1016/j.eplepsyres.2018.04.003. Epub 2018 Apr 5.

PMID:
29655171
13.

Cannabidiol in patients with seizures associated with Lennox-Gastaut syndrome (GWPCARE4): a randomised, double-blind, placebo-controlled phase 3 trial.

Thiele EA, Marsh ED, French JA, Mazurkiewicz-Beldzinska M, Benbadis SR, Joshi C, Lyons PD, Taylor A, Roberts C, Sommerville K; GWPCARE4 Study Group.

Lancet. 2018 Mar 17;391(10125):1085-1096. doi: 10.1016/S0140-6736(18)30136-3. Epub 2018 Jan 26.

PMID:
29395273
14.

Expanding the neurodevelopmental phenotype of PURA syndrome.

Lee BH, Reijnders MRF, Abubakare O, Tuttle E, Lape B, Minks KQ, Stodgell C, Bennetto L, Kwon J, Fong CT, Gripp KW, Marsh ED, Smith WE, Huq AM, Coury SA, Tan WH, Solis O, Mehta RI, Leventer RJ, Baralle D, Hunt D, Paciorkowski AR.

Am J Med Genet A. 2018 Jan;176(1):56-67. doi: 10.1002/ajmg.a.38521. Epub 2017 Nov 17.

15.

Epileptic Encephalopathies as Neurodegenerative Disorders.

Helbig I, von Deimling M, Marsh ED.

Adv Neurobiol. 2017;15:295-315. doi: 10.1007/978-3-319-57193-5_11. Review.

PMID:
28674986
16.

Erratum: Tissue-scale coordination of cellular behaviour promotes epidermal wound repair in live mice.

Park S, Gonzalez DG, Guirao B, Boucher JD, Cockburn K, Marsh ED, Mesa KR, Brown S, Rompolas P, Haberman AM, Bellaïche Y, Greco V.

Nat Cell Biol. 2017 Mar 31;19(4):407. doi: 10.1038/ncb3503. No abstract available.

PMID:
28361941
17.

Tissue-scale coordination of cellular behaviour promotes epidermal wound repair in live mice.

Park S, Gonzalez DG, Guirao B, Boucher JD, Cockburn K, Marsh ED, Mesa KR, Brown S, Rompolas P, Haberman AM, Bellaïche Y, Greco V.

Nat Cell Biol. 2017 Mar 1;19(2):155-163. doi: 10.1038/ncb3472. [Epub ahead of print] Erratum in: Nat Cell Biol. 2017 Mar 31;19(4):407.

18.

Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

von Deimling M, Helbig I, Marsh ED.

Curr Neurol Neurosci Rep. 2017 Feb;17(2):10. doi: 10.1007/s11910-017-0720-7. Review.

PMID:
28229394
19.

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.

Ahrens-Nicklas RC, Umanah GK, Sondheimer N, Deardorff MA, Wilkens AB, Conlin LK, Santani AB, Nesbitt A, Juulsola J, Ma E, Dawson TM, Dawson VL, Marsh ED.

Neurol Genet. 2017 Feb 1;3(1):e130. doi: 10.1212/NXG.0000000000000130. eCollection 2017 Feb.

20.

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

Tomlinson SB, Porter BE, Marsh ED.

Epilepsia. 2017 Mar;58(3):402-411. doi: 10.1111/epi.13657. Epub 2017 Feb 6.

21.

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A.

Ann Neurol. 2017 Mar;81(3):419-429. doi: 10.1002/ana.24883. Epub 2017 Feb 14.

22.

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

Tomlinson SB, Bermudez C, Conley C, Brown MW, Porter BE, Marsh ED.

Front Neurol. 2016 Dec 19;7:229. doi: 10.3389/fneur.2016.00229. eCollection 2016.

23.

De novo GABRG2 mutations associated with epileptic encephalopathies.

Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL.

Brain. 2017 Jan;140(1):49-67. doi: 10.1093/brain/aww272. Epub 2016 Nov 17.

24.

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

Gofshteyn JS, Wilfong A, Devinsky O, Bluvstein J, Charuta J, Ciliberto MA, Laux L, Marsh ED.

J Child Neurol. 2017 Jan;32(1):35-40. doi: 10.1177/0883073816669450. Epub 2016 Sep 29.

PMID:
27655472
25.

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ.

Am J Hum Genet. 2016 Oct 6;99(4):802-816. doi: 10.1016/j.ajhg.2016.07.013. Epub 2016 Sep 8.

26.

Corticothalamic network dysfunction and behavioral deficits in a mouse model of Alzheimer's disease.

Hazra A, Corbett BF, You JC, Aschmies S, Zhao L, Li K, Lepore AC, Marsh ED, Chin J.

Neurobiol Aging. 2016 Aug;44:96-107. doi: 10.1016/j.neurobiolaging.2016.04.016. Epub 2016 Apr 29.

27.

Developmental interneuron subtype deficits after targeted loss of Arx.

Marsh ED, Nasrallah MP, Walsh C, Murray KA, Nicole Sunnen C, McCoy A, Golden JA.

BMC Neurosci. 2016 Jun 10;17(1):35. doi: 10.1186/s12868-016-0265-8.

28.

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

Ng JM, Martinez D, Marsh ED, Zhang Z, Rappaport E, Santi M, Curran T.

Cancer Res. 2015 Nov 1;75(21):4629-39. doi: 10.1158/0008-5472.CAN-15-0874. Epub 2015 Sep 11.

29.

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

Skjei KL, Church EW, Harding BN, Santi M, Holland-Bouley KD, Clancy RR, Porter BE, Heuer GG, Marsh ED.

J Neurosurg Pediatr. 2015 Dec;16(6):668-74. doi: 10.3171/2015.5.PEDS14551. Epub 2015 Sep 4.

PMID:
26339958
30.

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

Bourgeois EB, Johnson BN, McCoy AJ, Trippa L, Cohen AS, Marsh ED.

PLoS One. 2014 Sep 26;9(9):e108686. doi: 10.1371/journal.pone.0108686. eCollection 2014.

31.

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Guo Y, Tian L, Palmieri F, Hakonarson H.

JIMD Rep. 2014;14:119. doi: 10.1007/8904_2014_314. Epub 2014 Jun 29. No abstract available.

32.

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC; PhD for the NISC Comparative Sequencing Program, Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA.

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

33.

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

Simonet JC, Sunnen CN, Wu J, Golden JA, Marsh ED.

Cereb Cortex. 2015 Sep;25(9):2939-50. doi: 10.1093/cercor/bhu090. Epub 2014 May 2.

34.

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

Matalon D, Goldberg E, Medne L, Marsh ED.

Epileptic Disord. 2014 Mar;16(1):13-8. doi: 10.1684/epd.2014.0641.

35.

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H.

JIMD Rep. 2014;14:77-85. doi: 10.1007/8904_2013_287. Epub 2014 Feb 11. Erratum in: JIMD Rep. 2014;14:119.

36.

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

Sunnen CN, Simonet JC, Marsh ED, Golden JA.

J Neuropathol Exp Neurol. 2014 Mar;73(3):253-61. doi: 10.1097/NEN.0000000000000048.

37.

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

Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S.

Pediatr Neurol. 2013 May;48(5):367-77. doi: 10.1016/j.pediatrneurol.2012.12.030. Erratum in: Pediatr Neurol. 2013 Jul;49(1):74. Alkhateeb, Asem [added].

38.

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

Ortiz-González XR, Poduri A, Roberts CM, Sullivan JE, Marsh ED, Porter BE.

Epilepsy Behav. 2013 Apr;27(1):121-3. doi: 10.1016/j.yebeh.2012.12.035. Epub 2013 Feb 13.

39.

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, Cohen JS, Fatemi A, Dobyns WB, Shaffer LG, Ballif BC, Marsh ED.

Neurogenetics. 2013 May;14(2):99-111. doi: 10.1007/s10048-013-0356-y. Epub 2013 Feb 7.

40.

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

Wang IT, Allen M, Goffin D, Zhu X, Fairless AH, Brodkin ES, Siegel SJ, Marsh ED, Blendy JA, Zhou Z.

Proc Natl Acad Sci U S A. 2012 Dec 26;109(52):21516-21. doi: 10.1073/pnas.1216988110. Epub 2012 Dec 10.

41.

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

Marsh ED.

Exp Neurol. 2013 Feb;240:108-11. doi: 10.1016/j.expneurol.2012.11.016. Epub 2012 Nov 22. No abstract available.

PMID:
23178581
42.

Developing Models of Aristaless-related homeobox mutations.

Marsh ED, Golden JA.

In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012.

43.

Delayed myelination in an intrauterine growth retardation model is mediated by oxidative stress upregulating bone morphogenetic protein 4.

Reid MV, Murray KA, Marsh ED, Golden JA, Simmons RA, Grinspan JB.

J Neuropathol Exp Neurol. 2012 Jul;71(7):640-53. doi: 10.1097/NEN.0b013e31825cfa81.

44.

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

Gupta JR, Marsh ED, Nieh HA, Porter BE, Litt B.

Conf Proc IEEE Eng Med Biol Soc. 2011;2011:3095-8. doi: 10.1109/IEMBS.2011.6090845.

PMID:
22254994
45.

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

Huang C, Marsh ED, Ziskind DM, Celix JM, Peltzer B, Brown MW, Storm PB, Litt B, Porter BE.

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

46.

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.

Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB.

Eur J Hum Genet. 2011 Dec;19(12):1238-45. doi: 10.1038/ejhg.2011.121. Epub 2011 Jun 22.

47.

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

Ahmad S, Marsh ED.

Semin Pediatr Neurol. 2010 Sep;17(3):150-4. doi: 10.1016/j.spen.2010.06.004. Review.

PMID:
20727483
48.

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

Marsh ED, Peltzer B, Brown MW 3rd, Wusthoff C, Storm PB Jr, Litt B, Porter BE.

Epilepsia. 2010 Apr;51(4):592-601. doi: 10.1111/j.1528-1167.2009.02306.x. Epub 2009 Sep 22.

49.

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

Marsh ED, Golden JA.

Dis Model Mech. 2009 Jul-Aug;2(7-8):329-35. doi: 10.1242/dmm.001883. Review.

50.

Identification of Arx transcriptional targets in the developing basal forebrain.

Fulp CT, Cho G, Marsh ED, Nasrallah IM, Labosky PA, Golden JA.

Hum Mol Genet. 2008 Dec 1;17(23):3740-60. doi: 10.1093/hmg/ddn271. Epub 2008 Sep 16.

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