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Sunflower Syndrome: A Survey of Provider Awareness and Management Preferences. Pediatr Neurol. 2024 Mar; 152:177-183.
Baumer FM, Julich K, Friedman J, Nespeca M, Thiele EA, Bhatia S, Joshi C. PMID: 38295719; PMCID: PMC10936539.
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HumansAnimals
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Author Correction: Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics. Commun Biol. 2023 Jan 13; 6(1):41.
Frohlich J, Chiang JN, Mediano PAM, Nespeca M, Saravanapandian V, Toker D, Dell'Italia J, Hipp JF, Jeste SS, Chu CJ, Bird LM, Monti MM. PMID: 36639573; PMCID: PMC9839733.
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Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development. Nat Genet. 2023 02; 55(2):209-220.
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S, Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network, Gleeson JG. PMID: 36635388; PMCID: PMC9961399.
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PubMed Mentions:
28 Fields:
Translation:
Humans
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Author Correction: Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics. Commun Biol. 2023 Jan 10; 6(1):24.
Frohlich J, Chiang JN, Mediano PAM, Nespeca M, Saravanapandian V, Toker D, Dell'Italia J, Hipp JF, Jeste SS, Chu CJ, Bird LM, Monti MM. PMID: 36627373; PMCID: PMC9832133.
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PubMed Mentions:
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Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics. Commun Biol. 2022 12 15; 5(1):1374.
Frohlich J, Chiang JN, Mediano PAM, Nespeca M, Saravanapandian V, Toker D, Dell'Italia J, Hipp JF, Jeste SS, Chu CJ, Bird LM, Monti MM. PMID: 36522453; PMCID: PMC9755290.
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PubMed Mentions:
6 Translation:
Humans
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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases. Nat Commun. 2022 07 26; 13(1):4057.
Owen MJ, Lefebvre S, Hansen C, Kunard CM, Dimmock DP, Smith LD, Scharer G, Mardach R, Willis MJ, Feigenbaum A, Niemi AK, Ding Y, Van Der Kraan L, Ellsworth K, Guidugli L, Lajoie BR, McPhail TK, Mehtalia SS, Chau KK, Kwon YH, Zhu Z, Batalov S, Chowdhury S, Rego S, Perry J, Speziale M, Nespeca M, Wright MS, Reese MG, De La Vega FM, Azure J, Frise E, Rigby CS, White S, Hobbs CA, Gilmer S, Knight G, Oriol A, Lenberg J, Nahas SA, Perofsky K, Kim K, Carroll J, Coufal NG, Sanford E, Wigby K, Wigby K, Weir J, Thomson VS, Fraser L, Lazare SS, Shin YH, Grunenwald H, Lee R, Jones D, Tran D, Gross A, Daigle P, Case A, Lue M, Richardson JA, Reynders J, Defay T, Hall KP, Veeraraghavan N, Kingsmore SF. PMID: 35882841; PMCID: PMC9325884.
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PubMed Mentions:
28 Fields:
Translation:
Humans
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A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. Mol Genet Genomic Med. 2022 03; 10(3):e1843.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. PMID: 35150089; PMCID: PMC8922964.
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PubMed Mentions:
11 Fields:
Translation:
Humans
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Clinical Characterization of Epilepsy in Children With Angelman Syndrome. Pediatr Neurol. 2021 11; 124:42-50.
Cassater D, Bustamante M, Sach-Peltason L, Rotenberg A, Nespeca M, Tan WH, Bird LM, Hipp JF. PMID: 34536900; PMCID: PMC8500934.
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PubMed Mentions:
2 Fields:
Translation:
HumansCTClinical Trials
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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome. N Engl J Med. 2021 06 03; 384(22):2159-2161.
Owen MJ, Niemi AK, Dimmock DP, Speziale M, Nespeca M, Chau KK, Van Der Kraan L, Wright MS, Hansen C, Veeraraghavan N, Ding Y, Lenberg J, Chowdhury S, Hobbs CA, Batalov S, Zhu Z, Nahas SA, Gilmer S, Knight G, Lefebvre S, Reynders J, Defay T, Weir J, Thomson VS, Fraser L, Lajoie BR, McPhail TK, Mehtalia SS, Kunard CM, Hall KP, Kingsmore SF. PMID: 34077649; PMCID: PMC9844116.
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PubMed Mentions:
34 Fields:
Translation:
Humans
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Photosensitive Epilepsy Syndromes Mimicking Motor Tics. Mov Disord Clin Pract. 2020 Sep; 7(Suppl 3):S89-S92.
Longardner K, Desai S, Nespeca M, Bainbridge M, Friedman J. PMID: 33015234; PMCID: PMC7525200.
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PubMed Mentions:
2 Fields:
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Does the first hour of continuous electroencephalography predict neonatal seizures? Arch Dis Child Fetal Neonatal Ed. 2021 Mar; 106(2):162-167.
Macdonald-Laurs E, Sharpe C, Nespeca M, Rismanchi N, Gold JJ, Kuperman R, Wang S, Lee NMD, Michelson DJ, Haas R, Reed P, Davis SL. PMID: 32928896.
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PubMed Mentions:
5 Fields:
Translation:
HumansCTClinical Trials
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Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial. Pediatrics. 2020 06; 145(6).
Sharpe C, Reiner GE, Davis SL, Nespeca M, Gold JJ, Rasmussen M, Kuperman R, Harbert MJ, Michelson D, Joe P, Wang S, Rismanchi N, Le NM, Mower A, Kim J, Battin MR, Lane B, Honold J, Knodel E, Arnell K, Bridge R, Lee L, Ernstrom K, Raman R, Haas RH, NEOLEV2 INVESTIGATORS. PMID: 32385134; PMCID: PMC7263056.
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PubMed Mentions:
50 Fields:
Translation:
HumansCTClinical Trials
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Assessing the Feasibility of Providing a Real-Time Response to Seizures Detected With Continuous Long-Term Neonatal Electroencephalography Monitoring. J Clin Neurophysiol. 2019 Jan; 36(1):9-13.
Sharpe C, Davis SL, Reiner GE, Lee LI, Gold JJ, Nespeca M, Wang SG, Joe P, Kuperman R, Gardner M, Honold J, Lane B, Knodel E, Rowe D, Battin MR, Bridge R, Goodmar J, Castro B, Rasmussen M, Arnell K, Harbert M, Haas R. PMID: 30289769; PMCID: PMC6320287.
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12 Fields:
Translation:
Humans
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Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy: Report of the American Epilepsy Society and the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Epilepsy Curr. 2018 Jul-Aug; 18(4):269-278.
Kanner AM, Ashman E, Gloss D, Harden C, Bourgeois B, Bautista JF, Abou-Khalil B, Burakgazi-Dalkilic E, Park EL, Stern J, Hirtz D, Nespeca M, Gidal B, Faught E, French J. PMID: 30254528; PMCID: PMC6145395.
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PubMed Mentions:
6
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Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society. Neurology. 2018 07 10; 91(2):82-90.
Kanner AM, Ashman E, Gloss D, Harden C, Bourgeois B, Bautista JF, Abou-Khalil B, Burakgazi-Dalkilic E, Llanas Park E, Stern J, Hirtz D, Nespeca M, Gidal B, Faught E, French J. PMID: 29898974.
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PubMed Mentions:
33 Fields:
Translation:
Humans
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Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society. Neurology. 2018 07 10; 91(2):74-81.
Kanner AM, Ashman E, Gloss D, Harden C, Bourgeois B, Bautista JF, Abou-Khalil B, Burakgazi-Dalkilic E, Llanas Park E, Stern J, Hirtz D, Nespeca M, Gidal B, Faught E, French J. PMID: 29898971.
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PubMed Mentions:
36 Fields:
Translation:
Humans
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Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 2018 02; 59(2):389-402.
Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. PMID: 29315614; PMCID: PMC5912688.
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PubMed Mentions:
54 Fields:
Translation:
Humans
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A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2018 05; 176(5):1099-1107.
Tan WH, Bird LM, Sadhwani A, Barbieri-Welge RL, Skinner SA, Horowitz LT, Bacino CA, Noll LM, Fu C, Hundley RJ, Wink LK, Erickson CA, Barnes GN, Slavotinek A, Jeremy R, Rotenberg A, Kothare SV, Olson HE, Poduri A, Nespeca MP, Chu HC, Willen JM, Haas KF, Weeber EJ, Rufo PA. PMID: 28944563; PMCID: PMC5867193.
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PubMed Mentions:
10 Fields:
Translation:
HumansAnimals
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Neurological Outcomes After Presumed Childhood Encephalitis. Pediatr Neurol. 2015 Sep; 53(3):200-6.
Rismanchi N, Gold JJ, Sattar S, Glaser C, Sheriff H, Proudfoot J, Mower A, Nespeca M, Crawford JR, Wang SG. PMID: 26220354.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Epilepsy After Resolution of Presumed Childhood Encephalitis. Pediatr Neurol. 2015 Jul; 53(1):65-72.
Rismanchi N, Gold JJ, Sattar S, Glaser CA, Sheriff H, Proudfoot J, Mower A, Crawford JR, Nespeca M, Wang SG. PMID: 26092415.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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The role of continuous electroencephalography in childhood encephalitis. Pediatr Neurol. 2014 Apr; 50(4):318-23.
Gold JJ, Crawford JR, Glaser C, Sheriff H, Wang S, Nespeca M. PMID: 24507696.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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Analysis of EEG patterns and genotypes in patients with Angelman syndrome. Epilepsy Behav. 2012 Mar; 23(3):261-5.
Vendrame M, Loddenkemper T, Zarowski M, Gregas M, Shuhaiber H, Sarco DP, Morales A, Nespeca M, Sharpe C, Haas K, Barnes G, Glaze D, Kothare SV. PMID: 22341959.
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PubMed Mentions:
36 Fields:
Translation:
Humans
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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012 Jan 26; 1(1):2-12.
Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptácek LJ. PMID: 22832103; PMCID: PMC3334308.
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PubMed Mentions:
109 Fields:
Translation:
HumansAnimalsCells
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A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec; 155A(12):2956-63.
Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL. PMID: 22002941; PMCID: PMC3222728.
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PubMed Mentions:
22 Fields:
Translation:
HumansCellsCTClinical Trials
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Multicentric infantile hemangiopericytoma: case report and review of the literature. J Pediatr Hematol Oncol. 2011 May; 33(4):e166-70.
Sulit DJ, Tom WL, Willert JR, Nespeca MP, Friedlander SF. PMID: 21516017.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Three-channel electroencephalogram montage in neonatal seizure detection and quantification. Pediatr Neurol. 2011 Jan; 44(1):31-4.
Zimbric MR, Sharpe CM, Albright KC, Nespeca MP. PMID: 21147384.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A. 2011 Jan; 155A(1):81-90.
Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. PMID: 21204213; PMCID: PMC3563320.
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PubMed Mentions:
55 Fields:
Translation:
HumansCells
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Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001.
Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, O'Brien WE, Beaudet AL, Bacino CA. PMID: 20635355; PMCID: PMC3172130.
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PubMed Mentions:
22 Fields:
Translation:
HumansCells
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Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options. Epilepsia. 2009 Nov; 50(11):2369-76.
Thibert RL, Conant KD, Braun EK, Bruno P, Said RR, Nespeca MP, Thiele EA. PMID: 19453717.
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PubMed Mentions:
46 Fields:
Translation:
Humans
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Prediction of neurologic sequelae in childhood tuberculous meningitis: a review of 20 cases and proposal of a novel scoring system. Pediatr Infect Dis J. 2005 Mar; 24(3):207-12.
Saitoh A, Pong A, Waecker NJ, Leake JA, Nespeca MP, Bradley JS. PMID: 15750455.
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PubMed Mentions:
8 Fields:
Translation:
HumansCells
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Childhood primary angiitis of the central nervous system: two biopsy-proven cases. J Pediatr. 2004 Nov; 145(5):693-7.
Yaari R, Anselm IA, Szer IS, Malicki DM, Nespeca MP, Gleeson JG. PMID: 15520782.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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Acute disseminated encephalomyelitis in childhood: epidemiologic, clinical and laboratory features. Pediatr Infect Dis J. 2004 Aug; 23(8):756-64.
Leake JA, Albani S, Kao AS, Senac MO, Billman GF, Nespeca MP, Paulino AD, Quintela ER, Sawyer MH, Bradley JS. PMID: 15295226.
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PubMed Mentions:
96 Fields:
Translation:
Humans
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Efficacy and tolerability of the new antiepileptic drugs, II: Treatment of refractory epilepsy: report of the TTA and QSS Subcommittees of the American Academy of Neurology and the American Epilepsy Society. Epilepsia. 2004 May; 45(5):410-23.
French JA, Kanner AM, Bautista J, Abou-Khalil B, Browne T, Harden CL, Theodore WH, Bazil C, Stern J, Schachter SC, Bergen D, Hirtz D, Montouris GD, Nespeca M, Gidal B, Marks WJ, Turk WR, Fischer JH, Bourgeois B, Wilner A, Faught RE, Sachdeo RC, Beydoun A, Glauser TA, American Academy of Neurology Therapeutics and Technology Assessment Subcommittee, American Academy of Neurology Quality Standards Subcommittee, American Epilepsy Society Therapeutics and Technology Assessment Subcommittee, American Epilepsy Society Quality Standards Subcommittee. PMID: 15101822.
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PubMed Mentions:
22 Fields:
Translation:
Humans
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Efficacy and tolerability of the new antiepileptic drugs, I: Treatment of new-onset epilepsy: report of the TTA and QSS Subcommittees of the American Academy of Neurology and the American Epilepsy Society. Epilepsia. 2004 May; 45(5):401-9.
French JA, Kanner AM, Bautista J, Abou-Khalil B, Browne T, Harden CL, Theodore WH, Bazil C, Stern J, Schachter SC, Bergen D, Hirtz D, Montouris GD, Nespeca M, Gidal B, Marks WJ, Turk WR, Fischer JH, Bourgeois B, Wilner A, Faught RE, Sachdeo RC, Beydoun A, Glauser TA, American Academy of Neurology Therapeutics and Technology Assessment Subcommittee, American Academy of Neurology Quality Standards Subcommittee, American Epilepsy Society Quality Standards Subcommittee, American Epilepsy Society Therapeutics and Technology Assessment Subcommittee. PMID: 15101821.
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PubMed Mentions:
18 Fields:
Translation:
Humans
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Efficacy and tolerability of the new antiepileptic drugs II: treatment of refractory epilepsy: report of the Therapeutics and Technology Assessment Subcommittee and Quality Standards Subcommittee of the American Academy of Neurology and the American Epilepsy Society. Neurology. 2004 Apr 27; 62(8):1261-73.
French JA, Kanner AM, Bautista J, Abou-Khalil B, Browne T, Harden CL, Theodore WH, Bazil C, Stern J, Schachter SC, Bergen D, Hirtz D, Montouris GD, Nespeca M, Gidal B, Marks WJ, Turk WR, Fischer JH, Bourgeois B, Wilner A, Faught RE, Sachdeo RC, Beydoun A, Glauser TA, Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology, Quality Standards Subcommittee of the American Academy of Neurology, American Epilepsy Society. PMID: 15111660.
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PubMed Mentions:
113 Fields:
Translation:
Humans
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Efficacy and tolerability of the new antiepileptic drugs I: treatment of new onset epilepsy: report of the Therapeutics and Technology Assessment Subcommittee and Quality Standards Subcommittee of the American Academy of Neurology and the American Epilepsy Society. Neurology. 2004 Apr 27; 62(8):1252-60.
French JA, Kanner AM, Bautista J, Abou-Khalil B, Browne T, Harden CL, Theodore WH, Bazil C, Stern J, Schachter SC, Bergen D, Hirtz D, Montouris GD, Nespeca M, Gidal B, Marks WJ, Turk WR, Fischer JH, Bourgeois B, Wilner A, Faught RE, Sachdeo RC, Beydoun A, Glauser TA, Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology, Quality Standards Subcommittee of the American Academy of Neurology, American Epilepsy Society. PMID: 15111659.
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PubMed Mentions:
95 Fields:
Translation:
Humans
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Pediatric acute hemorrhagic leukoencephalitis: report of a surviving patient and review. Clin Infect Dis. 2002 Mar 01; 34(5):699-703.
Leake JA, Billman GF, Nespeca MP, Duthie SE, Dory CE, Meltzer HS, Bradley JS. PMID: 11810602.
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PubMed Mentions:
19 Fields:
Translation:
Humans
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Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies. 2000. Neurology. 2001 Dec; 57(11 Suppl 4):S42-8.
Swoboda KJ, Soong BW, McKenna C, Brunt ER, Litt M, Bale JF, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, Leppert M, Ptácek LJ. PMID: 11775608.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 2000 Jul 25; 55(2):224-30.
Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, Leppert M, Ptácek LJ. PMID: 10908896.
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PubMed Mentions:
21 Fields:
Translation:
HumansCells
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Vocal cord paralysis as a presentation of intrauterine infection with varicella-zoster virus. Pediatrics. 1996 Jan; 97(1):127-8.
Randel RC, Kearns DB, Nespeca MP, Scher CA, Sawyer MH. PMID: 8545208.
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PubMed Mentions:
2 Fields:
Translation:
HumansPHPublic Health