M. Nespeca

发表

Defining the phenotypic spectrum of SLC6A1 mutations

G. Carvill, H. Mefford, P. Striano, 2018, Epilepsia.

Three-channel electroencephalogram montage in neonatal seizure detection and quantification.

K. Albright, Karen C Albright, M. Nespeca, 2011, Pediatric neurology.

Neurological Outcomes After Presumed Childhood Encephalitis.

J. Gold, C. Glaser, Neggy Rismanchi, 2015, Pediatric neurology.

Epilepsy After Resolution of Presumed Childhood Encephalitis.

J. Gold, C. Glaser, Neggy Rismanchi, 2015, Pediatric neurology.

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

B. Bourgeois, W. Marks, J. Stern, 2004 .

Paroxysmal kinesigenic dyskinesia and infantile convulsions

J. Jankovic, M. Leppert, A. Bowcock, 2000, Neurology.

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Francisco M. De La Vega, Laurie D. Smith, J. Weir, 2022, Nature Communications.

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.

J. Weir, S. Kingsmore, K. Hall, 2021, The New England journal of medicine.

Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies. 2000.

J. Jankovic, M. Leppert, A. Bowcock, 2001, Neurology.

Efficacy and tolerability of the new antiepileptic drugs II: Treatment of refractory epilepsy

B. Bourgeois, W. Marks, J. Stern, 2004, Neurology.

Epilepsy in Angelman syndrome: A questionnaire‐based assessment of the natural history and current treatment options

E. Thiele, Ronald L Thibert, M. Nespeca, 2009, Epilepsia.

Efficacy and Tolerability of the New Antiepileptic Drugs , II : Treatment of Refractory Epilepsy : Report of the TTA and QSS

B. Bourgeois, W. Marks, J. Stern, 2004 .

Childhood primary angiitis of the central nervous system: two biopsy-proven cases.

J. Gleeson, R. Yaari, D. Malicki, 2004, The Journal of pediatrics.

A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome

A. Beaudet, S. Waisbren, S. Skinner, 2011, American journal of medical genetics. Part A.

Does the first hour of continuous electroencephalography predict neonatal seizures?

J. Gold, P. Reed, Neggy Rismanchi, 2020, Archives of Disease in Childhood.

Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial

R. Raman, M. Rasmussen, K. Arnell, 2020, Pediatrics.

Pediatric acute hemorrhagic leukoencephalitis: report of a surviving patient and review.

H. Meltzer, J. Leake, J. Bradley, 2002, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics

Jeffrey N. Chiang, P. Mediano, J. Hipp, 2022, Communications Biology.

Multicentric Infantile Hemangiopericytoma: Case Report and Review of the Literature

J. Willert, S. Friedlander, W. Tom, 2011, Journal of pediatric hematology/oncology.

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

J. Jankovic, A. Bowcock, K. Bhatia, 2012, Cell reports.

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

B. Bourgeois, W. Marks, J. Stern, 2004, Epilepsia.

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

B. Bourgeois, W. Marks, J. Stern, 2004, Epilepsia.

CME 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

B. Bourgeois, W. Marks, J. Stern, 2004 .

Acute Disseminated Encephalomyelitis in Childhood: Epidemiologic, Clinical and Laboratory Features

M. Sawyer, S. Albani, J. Leake, 2004, The Pediatric infectious disease journal.

Angelman syndrome: Mutations influence features in early childhood

A. Beaudet, S. Waisbren, Hye-Seung Lee, 2011, American journal of medical genetics. Part A.

Prediction of Neurologic Sequelae in Childhood Tuberculous Meningitis: A Review of 20 Cases and Proposal of a Novel Scoring System

J. Leake, J. Bradley, A. Saitoh, 2005, The Pediatric infectious disease journal.

Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

Kiely N. James, Martin W. Breuss, Laurel L. Ball, 2022, bioRxiv.

Double‐blind therapeutic trial in Angelman syndrome using betaine and folic acid

A. Beaudet, S. Waisbren, L. Bird, 2010, American journal of medical genetics. Part A.

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

Nicole V. Harris, J. Summers, L. Bird, 2022, Molecular genetics & genomic medicine.

Analysis of EEG patterns and genotypes in patients with Angelman syndrome

T. Loddenkemper, M. Gregas, S. Kothare, 2012, Epilepsy & Behavior.

Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new onset epilepsy

B. Bourgeois, W. Marks, J. Stern, 2004, Neurology.

Clinical Characterization of Epilepsy in Children With Angelman Syndrome.

J. Hipp, A. Rotenberg, L. Bird, 2021, Pediatric neurology.

The role of continuous electroencephalography in childhood encephalitis.

J. Gold, C. Glaser, J. Crawford, 2014, Pediatric neurology.

Mutations in the Novel Protein PRRT2 Cause Infantile Convulsions with Paroxysmal Kinesigenic Dyskinesia

Lynch, J. Jankovic, A. Bowcock, 2012 .

A randomized controlled trial of levodopa in patients with Angelman syndrome

E. Weeber, A. Rotenberg, S. Skinner, 2018, American journal of medical genetics. Part A.

Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new onset epilepsy

B. Bourgeois, W. Marks, J. Stern, 2004, Neurology.

Photosensitive Epilepsy Syndromes Mimicking Motor Tics

M. Bainbridge, J. Friedman, S. Desai, 2020, Movement disorders clinical practice.

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Sara B. Linker, Ryan E. Mills, Kiely N. James, 2023, Nature Genetics.

Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy

B. Bourgeois, J. Stern, D. Hirtz, 2018, Epilepsy currents.

Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy

B. Bourgeois, J. Stern, D. Hirtz, 2018, Epilepsy currents.

Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy

B. Bourgeois, J. Stern, D. Hirtz, 2018, Neurology.

Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy

B. Bourgeois, J. Stern, D. Hirtz, 2018, Neurology.

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

B. Bourgeois, W. Marks, J. Stern, 2004 .

Assessing the Feasibility of Providing a Real-Time Response to Seizures Detected With Continuous Long-Term Neonatal Electroencephalography Monitoring

M. Rasmussen, K. Arnell, Renee Bridge, 2019, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new onset epilepsy

B. Bourgeois, W. Marks, J. Stern, 2004, Neurology.

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

B. Bourgeois, W. Marks, J. Stern, 2004 .

Appendix D: 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

B. Bourgeois, W. Marks, J. Stern, 2007 .

Analysis of EEG patterns and genotypes in patients with Angelman syndrome

T. Loddenkemper, M. Gregas, S. Kothare, 2012, Epilepsy & Behavior.

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

B. Bourgeois, W. Marks, J. Stern, 2004, Epilepsia.

CME Efficacy and tolerability of the new antiepileptic drugs II : Treatment of refractory epilepsy Report of the Therapeutics and Technology Assessment

G. Montouris, R. Sachdeo, R. Faught, 2004 .

CME Efficacy and tolerability of the new antiepileptic drugs I : Treatment of new onset epilepsy

B. Bourgeois, W. Marks, J. Stern, 2004 .

Sunflower Syndrome: A Survey of Provider Awareness and Management Preferences.

M. Nespeca, Charuta N. Joshi, Fiona M. Baumer, 2023, Pediatric neurology.