Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies

<scp>ILAE</scp> classification of the epilepsies: Position paper of the <scp>ILAE</scp> Commission for Classification and Terminology

Scheffer, I. E., Berkovic, S., Capovilla, G., Connolly, M. B., French, J., Guilhoto, L., Hirsch, E., Jain, S., Mathern, G. W., Moshé, S. L., et al. (2017) · Epilepsia · doi:10.1111/epi.13709 · Cited by 5,054 · see citing works

Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome

Devinsky, O., Cross, J. H., Laux, L., Marsh, E., Miller, I., Nabbout, R., Scheffer, I. E., Thiele, E. A., & Wright, S. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1611618 · Cited by 1,711 · see citing works

The Sleep Disturbance Scale for Children (SDSC) Construct ion and validation of an instrument to evaluate sleep disturbances in childhood and adolescence

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Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

Scheffer, I. E. (1997) · Brain · doi:10.1093/brain/120.3.479 · Cited by 758 · see citing works

The genetic landscape of the epileptic encephalopathies of infancy and childhood

McTague, A., Howell, K. B., Cross, J. H., Kurian, M. A., & Scheffer, I. E. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00250-1 · Cited by 605 · see citing works

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., et al. (2017) · Brain · doi:10.1093/brain/awx054 · Cited by 600 · see citing works

Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group

Richter, T. A., Nestler-Parr, S., Babela, R., Khan, Z., Tesoro, T., Molsen, E., & Hughes, D. A. (2015) · Value in Health · doi:10.1016/j.jval.2015.05.008 · Cited by 595 · see citing works

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

Schulz, A., Ajayi, T., Specchio, N., de Los Reyes, E., Gissen, P., Ballon, D., Dyke, J. P., Cahan, H., Slasor, P., Jacoby, D., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1712649 · Cited by 489 · see citing works

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

Symonds, J. D., Zuberi, S. M., Stewart, K., McLellan, A., O‘Regan, M., MacLeod, S., Jollands, A., Joss, S., Kirkpatrick, M., Brunklaus, A., et al. (2019) · Brain · doi:10.1093/brain/awz195 · Cited by 459 · see citing works

The United Kingdom Infantile Spasms Study (UKISS) comparing hormone treatment with vigabatrin on developmental and epilepsy outcomes to age 14 months: a multicentre randomised trial

Lux, A. L., Edwards, S. W., Hancock, E. C., Johnson, A. L., Kennedy, C., Newton, R., O'Callaghan, F. J., Verity, C. M., & Osborne, J. P. (2005) · The Lancet Neurology · doi:10.1016/s1474-4422(05)70199-x · Cited by 407 · see citing works

Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer

Wong, M., Mayoh, C., Lau, L. M. S., Khuong-Quang, D.-A., Pinese, M., Kumar, A., Barahona, P., Wilkie, E. E., Sullivan, P. A., Bowen-James, R., et al. (2020) · Nature Medicine · doi:10.1038/s41591-020-1072-4 · Cited by 397 · see citing works

Mortality in Dravet syndrome

Cooper, M. S., McIntosh, A. M., Crompton, D. E., McMahon, J. M., Schneider, A., Farrell, K., Ganesan, V., Gill, D. S., Kivity, S., Lerman‐Sagie, T., et al. (2016) · Epilepsy Research · doi:10.1016/j.eplepsyres.2016.10.006 · Cited by 320 · see citing works

STXBP1 encephalopathy

Stamberger, H., Nikanorova, M., Willemsen, M. H., Accorsi, P., Angriman, M., Baier, H., Benkel-Herrenbrueck, I., Benoît, V., Budetta, M., Caliebe, A., et al. (2016) · Neurology · doi:10.1212/wnl.0000000000002457 · Cited by 317 · see citing works

Clinical Outcome Assessments: Conceptual Foundation—Report of the ISPOR Clinical Outcomes Assessment – Emerging Good Practices for Outcomes Research Task Force

Walton, M. K., Powers, J. H., Hobart, J. C., Patrick, D. L., Marquis, P., Vamvakas, S., Isaac, M., Molsen, E., Cano, S., & Burke, L. B. (2015) · Value in Health · doi:10.1016/j.jval.2015.08.006 · Cited by 310 · see citing works

Opposing Effects on Na V 1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures

Ben-Shalom, R., Keeshen, C. M., Berrios, K. N., An, J. Y., Sanders, S. J., & Bender, K. J. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2017.01.009 · Cited by 288 · see citing works

Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy

Berkovic, S. F., Heron, S. E., Giordano, L., Marini, C., Guerrini, R., Kaplan, R. E., Gambardella, A., Steinlein, O. K., Grinton, B. E., Dean, J. T., et al. (2004) · Annals of Neurology · doi:10.1002/ana.20029 · Cited by 285 · see citing works

Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial

Kotulska, K., Kwiatkowski, D. J., Curatolo, P., Weschke, B., Riney, K., Jansen, F. E., Feucht, M., Kršek, P., Nabbout, R., Jansen, A., et al. (2020) · Annals of Neurology · doi:10.1002/ana.25956 · Cited by 269 · see citing works

Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

Austin, C. P., Cutillo, C. M., Lau, L. P. L., Jonker, A. H., Rath, A., Julkowska, D., Thomson, D., Terry, S. F., de Montleau, B., Ardigò, D., et al. (2017) · Clinical and Translational Science · doi:10.1111/cts.12500 · Cited by 244 · see citing works

Diagnostic tests for autism spectrum disorder (ASD) in preschool children

Randall, M., Egberts, K. J., Samtani, A., Scholten, R. J. P. M., Hooft, L., Livingstone, N., Sterling-Levis, K., Woolfenden, S. R., & Williams, K. J. (2018) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd009044.pub2 · Cited by 221 · see citing works

Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome

Tang, R., & Fang, F. (2017) · New England Journal of Medicine · doi:10.1056/nejmc1708349 · Cited by 209 · see citing works

Profile of neonatal epilepsies: Characteristics of a prospective US cohort

Shellhaas, R. A., Wusthoff, C. J., Tsuchida, T. N., Glass, H. C., Chu, C. J., Massey, S. L., Soul, J. S., Wiwattanadittakun, N., Abend, N. S., Cilio, M. R., et al. (2017) · Neurology · doi:10.1212/wnl.0000000000004284 · Cited by 208 · see citing works

A roadmap for precision medicine in the epilepsies

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Measuring what matters to rare disease patients – reflections on the work by the IRDiRC taskforce on patient-centered outcome measures

Morel, T., & Cano, S. (2017) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-017-0718-x · Cited by 194 · see citing works

One Year of Newborn Screening for SMA – Results of a German Pilot Project

Vill, K., Kölbel, H., Schwartz, O., Blaschek, A., Olgemöller, B., Harms, E., Burggraf, S., Röschinger, W., Durner, J., Gläser, D., et al. (2019) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-190428 · Cited by 188 · see citing works

Deciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy”

Scheffer, I. E., & Liao, J. (2020) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2019.12.023 · Cited by 180 · see citing works

Epilepsy biomarkers – Toward etiology and pathology specificity

Pitkänen, A., Ndode‐Ekane, X. E., Lapinlampi, N., & Puhakka, N. (2018) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.05.007 · Cited by 170 · see citing works

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

Demarest, S., Olson, H. E., Moss, A. F. D., Pestana‐Knight, E., Zhang, X., Parikh, S., Swanson, L. C., Riley, K. D., Bazin, G. A., Angione, K., et al. (2019) · Epilepsia · doi:10.1111/epi.16285 · Cited by 156 · see citing works

Epilepsy and developmental disorders: Next generation sequencing in the clinic

Symonds, J. D., & McTague, A. (2019) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2019.12.008 · Cited by 155 · see citing works

Mutations in KCNT 1 cause a spectrum of focal epilepsies

Møller, R. S., Heron, S. E., Larsen, L. H. G., Lim, C. X., Ricos, M. G., Bayly, M. A., van Kempen, M. J. A., Klinkenberg, S., Andrews, I., Kelley, K. R., et al. (2015) · Epilepsia · doi:10.1111/epi.13071 · Cited by 153 · see citing works

Precision therapy for epilepsy due to KCNT1 mutations

Mullen, S. A., Carney, P. W., Roten, A., Ching, M., Lightfoot, P. A., Churilov, L. P., Nair, U., Li, M., Berkovic, S. F., Petrou, S., et al. (2017) · Neurology · doi:10.1212/wnl.0000000000004769 · Cited by 150 · see citing works

From Genetic Testing to Precision Medicine in Epilepsy

Striano, P., & Minassian, B. A. (2020) · Neurotherapeutics · doi:10.1007/s13311-020-00835-4 · Cited by 149 · see citing works

Improving IQ measurement in intellectual disabilities using true deviation from population norms

Sansone, S. M., Schneider, A., Bickel, E., Berry-Kravis, E., Prescott, C., & Hessl, D. (2014) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-6-16 · Cited by 148 · see citing works

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Burgess, R., Wang, S., McTague, A., Boysen, K. E., Yang, X., Zeng, Q., Myers, K. A., Rochtus, A., Trivisano, M., Gill, D., et al. (2019) · Annals of Neurology · doi:10.1002/ana.25619 · Cited by 141 · see citing works

Infantile Spasms: Outcome in Clinical Studies

Riikonen, R. (2020) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2020.01.015 · Cited by 136 · see citing works

Progressive Gait Deterioration in Adolescents With Dravet Syndrome

Rodda, J. M., Scheffer, I. E., McMahon, J. M., Berkovic, S. F., & Graham, H. K. (2012) · Archives of Neurology · doi:10.1001/archneurol.2011.3275 · Cited by 121 · see citing works

A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy

Howell, K. B., Eggers, S., Dalziel, K., Riseley, J., Mandelstam, S., Myers, C. T., McMahon, J. M., Schneider, A., Carvill, G. L., Mefford, H. C., et al. (2018) · Epilepsia · doi:10.1111/epi.14087 · Cited by 114 · see citing works

Predicting and affecting response to cancer therapy based on pathway-level biomarkers

Ben‐Hamo, R., Berger, A. J., Gavert, N. S., Miller, M. L., Pines, G., Oren, R., Pikarsky, E., Benes, C. H., Neuman, T., Zwang, Y., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17090-y · Cited by 109 · see citing works

Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy

Bayat, A., Bayat, M., Rubboli, G., & Møller, R. S. (2021) · Genes · doi:10.3390/genes12071051 · Cited by 98 · see citing works

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies

Palmer, E. E., Sachdev, R., Macintosh, R., Melo, U. S., Mundlos, S., Righetti, S., Kandula, T., Minoche, A. E., Puttick, C., Gayevskiy, V., et al. (2021) · Neurology · doi:10.1212/wnl.0000000000011655 · Cited by 93 · see citing works

Development and assessment of a shortened Q uality of L ife in C hildhood E pilepsy Q uestionnaire ( QOLCE ‐55)

Goodwin, S. W., Lambrinos, A. I., Ferro, M. A., Sabaz, M., & Speechley, K. N. (2015) · Epilepsia · doi:10.1111/epi.13000 · Cited by 88 · see citing works

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy

Berecki, G., Howell, K. B., Deerasooriya, Y. H., Cilio, M. R., Oliva, M., Kaplan, D. I., Scheffer, I. E., Berkovic, S. F., & Petrou, S. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1800077115 · Cited by 88 · see citing works

Sleep problems in Dravet syndrome: a modifiable comorbidity

Licheni, S. H., Mcmahon, J. M., Schneider, A. L., Davey, M. J., & Scheffer, I. E. (2018) · Developmental Medicine &amp; Child Neurology · doi:10.1111/dmcn.13601 · Cited by 85 · see citing works

Improving the inter-rater agreement of hypsarrhythmia using a simplified EEG grading scale for children with infantile spasms

Mytinger, J. R., Hussain, S. A., Islam, M. P., Millichap, J. G., Patel, A. D., Ryan, N. R., Twanow, J. E., & Heyer, G. L. (2015) · Epilepsy Research · doi:10.1016/j.eplepsyres.2015.07.008 · Cited by 80 · see citing works

Severity Assessment in CDKL5 Deficiency Disorder

Demarest, S., Pestana‐Knight, E., Olson, H. E., Downs, J. A., Marsh, E. D., Kaufmann, W. E., Partridge, C., Leonard, H., Gwadry-Sridhar, F. H., Frame, K. E., et al. (2019) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2019.03.017 · Cited by 79 · see citing works

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

Papuc, S. M., Abela, L., Steindl, K., Begemann, A., Simmons, T. L., Schmitt, B., Zweier, M., Oneda, B., Socher, E., Crowther, L. M., et al. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0299-8 · Cited by 72 · see citing works

The Australian Cystic Fibrosis Data Registry Annual Report, 2017

Ruseckaite, R., Ahern, S., Ranger, T. A., TACEY, M. A., Dean, J. T., Gardam, M., Bell, S. C., & Burke, N. (2021) · Cited by 70 · see citing works

Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy

Kariyawasam, D. S. T., D’Silva, A., Lin, C. S.-Y., Ryan, M. M., & Farrar, M. A. (2019) · Frontiers in Neurology · doi:10.3389/fneur.2019.00898 · Cited by 69 · see citing works

Fenfluramine HCl (Fintepla®) provides long‐term clinically meaningful reduction in seizure frequency: Analysis of an ongoing open‐label extension study

Sullivan, J. E., Scheffer, I. E., Lagae, L. G., Nabbout, R., Pringsheim, M., Talwar, D., Polster, T., Galer, B. S., Lock, M. D., Agarwal, A., et al. (2020) · Epilepsia · doi:10.1111/epi.16722 · Cited by 69 · see citing works

Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures

Nabbout, R., Auvin, S., Chiron, C., Thiele, E. A., Cross, J. H., Scheffer, I. E., Schneider, A., Guerrini, R., Williamson, N., & Zogenix and Adelphi Values study group (2019) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.14186 · Cited by 68 · see citing works

Care for patients with ultra-rare disorders

Hennekam, R. C. M. (2010) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.12.001 · Cited by 66 · see citing works

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

Moavero, R., Benvenuto, A., Gialloreti, L. E., Siracusano, M., Kotulska, K., Weschke, B., Riney, K., Jansen, F. E., Feucht, M., Kršek, P., et al. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8060788 · Cited by 66 · see citing works

Confusing placebo effect with natural history in epilepsy: A big data approach

Goldenholz, D. M., Moss, R., Scott, J. M., Auh, S., & Theodore, W. H. (2015) · Annals of Neurology · doi:10.1002/ana.24470 · Cited by 65 · see citing works

The Early Childhood Epilepsy Severity Scale (E-Chess)

Humphrey, A., Ploubidis, G. B., Yates, J. R. W., Steinberg, T., & Bolton, P. (2008) · Epilepsy Research · doi:10.1016/j.eplepsyres.2008.01.007 · Cited by 59 · see citing works

Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III

Sadhwani, A., Wheeler, A., Gwaltney, A. Y., Peters, S. U., Barbieri‐Welge, R. L., Horowitz, L. T., Noll, L. M., Hundley, R. J., Bird, L. M., & Tan, W. (2021) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-020-04861-1 · Cited by 58 · see citing works

SCN2A ‐Developmental and Epileptic Encephalopathies: Challenges to trial‐readiness for non‐seizure outcomes

Berg, A. T., Palac, H., Wilkening, G. N., Zelko, F. A. J., & Schust, L. F. (2020) · Epilepsia · doi:10.1111/epi.16750 · Cited by 55 · see citing works

From next-generation sequencing to targeted treatment of non-acquired epilepsies

Møller, R. S., Hammer, T. B., Rubboli, G., Lemke, J. R., & Johannesen, K. M. (2019) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2019.1573144 · Cited by 54 · see citing works

Are the days of counting seizures numbered?

Karoly, P. J., Goldenholz, D. M., & Cook, M. J. (2018) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000533 · Cited by 48 · see citing works

The information needs of parents of children with early-onset epilepsy: A systematic review

Nevin, S. M., Wakefield, C. E., Schilstra, C. E., McGill, B. C., Bye, A., & Palmer, E. E. (2020) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2020.107382 · Cited by 48 · see citing works

Systematic Review of the Measurement Properties of Tools Used to Measure Behaviour Problems in Young Children with Autism

Hanratty, J., Livingstone, N., Robalino, S., Terwee, C. B., Glod, M., Oono, I. P., Rodgers, J., Macdonald, G. M., & McConachie, H. (2015) · PLoS ONE · doi:10.1371/journal.pone.0144649 · Cited by 46 · see citing works

Epilepsy: key experimental therapeutics in early clinical development

Steriade, C., French, J. A., & Devinsky, O. (2020) · Expert Opinion on Investigational Drugs · doi:10.1080/13543784.2020.1743678 · Cited by 45 · see citing works

The impact of severe pediatric epilepsy on experienced stress and psychopathology in parents

Jakobsen, A. V., Møller, R. S., Nikanorova, M., & Elklit, A. (2020) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2020.107538 · Cited by 45 · see citing works

Impaired intracortical inhibition demonstrated in vivo in people with Dravet syndrome

Stern, W. M., Sander, J. W. A. S., Rothwell, J. C., & Sisodiya, S. M. (2017) · Neurology · doi:10.1212/wnl.0000000000003868 · Cited by 42 · see citing works

Mortality in infantile spasms: A hospital‐based study

Harini, C., Nagarajan, E., Bergin, A. M. R., Pearl, P. L., Loddenkemper, T., Takeoka, M., Morrison, P. F., Coulter, D. L., Harappanahally, G. V., Marti, C., et al. (2020) · Epilepsia · doi:10.1111/epi.16468 · Cited by 42 · see citing works

Sebelipase Alfa: A Review in Lysosomal Acid Lipase Deficiency

Frampton, J. E. (2016) · American Journal of Cardiovascular Drugs · doi:10.1007/s40256-016-0203-2 · Cited by 39 · see citing works

Relationship of electrophysiological dysfunction and clinical severity inSCN2A-related epilepsies

Lauxmann, S., Verbeek, N. E., Liu, Y., Zaichuk, M., Müller, S., Lemke, J. R., van Kempen, M. J. A., Lerche, H., & Hedrich, U. B. S. (2018) · Human Mutation · doi:10.1002/humu.23619 · Cited by 39 · see citing works

Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome

Gburek‐Augustat, J., Beck‐Woedl, S., Tzschach, A., Bauer, P., Schoening, M., & Rieß, A. (2016) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2016.04.005 · Cited by 36 · see citing works

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

Kolc, K. L., Sadleir, L. G., Depienne, C., Marini, C., Scheffer, I. E., Møller, R. S., Trivisano, M., Specchio, N., Pham, D., Kumar, R., et al. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-0803-0 · Cited by 35 · see citing works

Diagnostic Biomarkers of Epilepsy

Sueri, C., Gasparini, S., Balestrini, S., Labate, A., Gambardella, A., Russo, E., Leo, A., Casarotto, S., Pittau, F., Trimboli, M., et al. (2018) · Current Pharmaceutical Biotechnology · doi:10.2174/1389201019666180713095251 · Cited by 32 · see citing works

Cognitive and Social Outcomes of Epileptic Encephalopathies

Nickels, K. C., & Wirrell, E. C. (2017) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2017.10.001 · Cited by 31 · see citing works

Integration of genomics, high throughput drug screening, and personalized xenograft models as a novel precision medicine paradigm for high risk pediatric cancer

Tsoli, M., Wadham, C., Pinese, M., Failes, T. W., Joshi, S. M., Mould, E. V. A., Yin, J. X. M., Gayevskiy, V., Kumar, A., Kaplan, W. H., et al. (2018) · Cancer Biology & Therapy · doi:10.1080/15384047.2018.1491498 · Cited by 28 · see citing works

Electroencephalographic features of patients with SCN1A-positive Dravet syndrome

Lee, H.-F., Chi, C., Tsai, C., Chen, C.-H., & Wang, C. (2014) · Brain and Development · doi:10.1016/j.braindev.2014.10.003 · Cited by 27 · see citing works

Quantitative retrospective natural history modeling for orphan drug development

Garbade, S. F., Zielonka, M., Komatsuzaki, S., Kölker, S., Hoffmann, G. F., Hinderhofer, K., Mountford, W. K., Mengel, E., Sláma, T., Mechler, K., et al. (2020) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12304 · Cited by 27 · see citing works

Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder

Saldaris, J. M., Weisenberg, J. L. Z., Pestana‐Knight, E., Marsh, E. D., Suter, B., Rajaraman, R. R., Heidary, G., Olson, H. E., Devinsky, O., Price, D., et al. (2021) · Journal of Child Neurology · doi:10.1177/08830738211019576 · Cited by 27 · see citing works

Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study

Myers, K. A., Davey, M. J., Ching, M. S., Ellis, C. A., Grinton, B. E., Roten, A., Lightfoot, P. A., & Scheffer, I. E. (2018) · Journal of Clinical Sleep Medicine · doi:10.5664/jcsm.7376 · Cited by 26 · see citing works

Precision medicine in pediatric solid cancers

Blattner-Johnson, M., Jones, D., & Pfaff, E. (2021) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2021.06.008 · Cited by 24 · see citing works

Limited role for routine EEG in the assessment of staring in children with autism spectrum disorder

Hughes, R., Poon, W.-Y., & Harvey, A. S. (2014) · Archives of Disease in Childhood · doi:10.1136/archdischild-2014-306400 · Cited by 23 · see citing works

The importance of natural histories for rare diseases

Gavin, P. (2015) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2015.1063415 · Cited by 23 · see citing works

Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management

Mastrangelo, M. (2020) · Metabolic Brain Disease · doi:10.1007/s11011-020-00635-x · Cited by 22 · see citing works

FDA orphan products clinical trial grants: assessment of outcomes and impact on rare disease product development

Miller, K. L., Mueller, C. M., Liu, G., Needleman, K. I. M., & Maynard, J. W. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01514-5 · Cited by 15 · see citing works

Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy

McKeon, G., Palmer, E. E., Macintosh, R., Nevin, S. M., Wheatley, L., & Rosenbaum, S. (2021) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2021.108022 · Cited by 8 · see citing works

Are Seizure Detection Devices Ready for Prime Time?

Ness, P. C. V. (2019) · Epiliepsy currents/Epilepsy currents · doi:10.1177/1535759719827430 · Cited by 7 · see citing works

Potassium Channel Mutations in Epilepsy

Palmer, E. E. (2020) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780190669164.013.13 · Cited by 1 · see citing works

Developmental and epileptic encephalopathies

Scheffer, I. E., Zuberi, S., Mefford, H. C., Guerrini, R., & McTague, A. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00546-6 · Cited by 128 · see citing works

Current practice in diagnostic genetic testing of the epilepsies

Krey, I., Platzer, K., Esterhuizen, A. I., Berkovic, S. F., Helbig, I., Hildebrand, M. S., Lerche, H., Lowenstein, D. H., Møller, R. S., Poduri, A., et al. (2022) · Epileptic Disorders · doi:10.1684/epd.2022.1448 · Cited by 113 · see citing works

Pharmacological diversity amongst approved and emerging antiseizure medications for the treatment of developmental and epileptic encephalopathies

Sills, G. J. (2023) · Therapeutic Advances in Neurological Disorders · doi:10.1177/17562864231191000 · Cited by 30 · see citing works

Quality of life in caregivers of a child with a developmental and epileptic encephalopathy

Robertson, E. G., Kelada, L., Best, S., Goranitis, I., Pierce, K., CoGENeS Group, Bye, A., & Palmer, E. E. (2023) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.15695 · Cited by 24 · see citing works

Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy

Fan, H., Yang, M., Lin, L., Chiang, K.-L., & Chen, C. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms25010031 · Cited by 26 · see citing works

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Wang, S., Perucca, E., Berkovic, S. F., & Perucca, P. (2025) · Epilepsia Open · doi:10.1002/epi4.70065 · Cited by 21 · see citing works

What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy

Downs, J. A., Ludwig, N. N., Wojnaroski, M., Keeley, J., Myers, L. S., Chapman, C. A. T., Hecker, J., Conecker, G., & Berg, A. T. (2023) · Quality of Life Research · doi:10.1007/s11136-023-03543-6 · Cited by 24 · see citing works

Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty

Palmer, E. E., Sachdev, R., Beavis, E., Macintosh, R., Marne, F. A. L., Nevin, S. M., Bye, A. M., & Nunn, K. P. (2022) · Journal of Paediatrics and Child Health · doi:10.1111/jpc.16165 · Cited by 18 · see citing works

Genetische Diagnostik der Epilepsien: Empfehlung der Kommission Epilepsie und Genetik der Deutschen Gesellschaft für Epileptologie (DGfE)

Boßelmann, C. M., Borggräfe, I., Fazeli, W., Klein, K. M., Kluger, G. J., Müller‐Schlüter, K., Neubauer, B. A., von Spiczak, S., von Stülpnagel-Steinbeis, C., Weber, Y. G., et al. (2023) · Clinical Epileptology · doi:10.1007/s10309-023-00580-6 · Cited by 16 · see citing works

Clinical signatures of SYNGAP1-related disorders through data integration

McKee, J. L., Magielski, J. H., Xian, J., Cohen, S. R., Toib, J., Harrison, A., Chen, C., Kim, D., Rathod, A., Brimble, E., et al. (2025) · Genetics in Medicine · doi:10.1016/j.gim.2025.101419 · Cited by 15 · see citing works

The Locus Coeruleus Noradrenaline System in Delirium

Hansen, N., & Rediske, A. I. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.784356 · Cited by 15 · see citing works

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

Howell, K. B., White, S. M., McTague, A., D’Gama, A. M., Costain, G., Poduri, A., Scheffer, I. E., Chau, V., Smith, L., Stephenson, S. E. M., et al. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00474-8 · Cited by 14 · see citing works

Learnings in developmental and epileptic encephalopathies: what do we know?

Perinelli, M. G., Riva, A., Amadori, E., Follo, R., & Striano, P. (2023) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2023.2176221 · Cited by 13 · see citing works

Comprehensive scoping review of fenfluramine's role in managing generalized tonic–clonic seizures in developmental and epileptic encephalopathies

Gil‐Nagel, A., Cross, J. H., Devinsky, O., Ceulemans, B., Lagae, L. G., Knupp, K. G., Schoonjans, A., Ryvlin, P., Thiele, E. A., Polega, S., et al. (2024) · Epilepsia · doi:10.1111/epi.18020 · Cited by 13 · see citing works

Caregiver‐reported meaningful change in functional domains for individuals with developmental and epileptic encephalopathy: A convergent mixed‐methods design

Downs, J. A., Haywood, S., Ludwig, N. N., Wojnaroski, M., Hommer, R., Muzyczka, K., Hecker, J., Conecker, G., Keeley, J., & Berg, A. T. (2025) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.16363 · Cited by 11 · see citing works

Characterisation and automated quantification of induced seizure‐related behaviours in Xenopus laevis tadpoles

Panthi, S., Chapman, P. A., Szyszka, P., & Beck, C. W. (2023) · Journal of Neurochemistry · doi:10.1111/jnc.15836 · Cited by 11 · see citing works

“Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy

Robertson, E. G., Roberts, N., Marne, F. A. L., Beavis, E., Macintosh, R., Kelada, L., Best, S., Goranitis, I., Pierce, K., Gill, D. S., et al. (2023) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2023.09.010 · Cited by 11 · see citing works

Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy

McKenzie, C. E., Forster, I. C., Soh, M. S., Phillips, A. M., Bleakley, L. E., Russ-Hall, S. J., Myers, K. A., Scheffer, I. E., & Reid, C. A. (2023) · Brain Communications · doi:10.1093/braincomms/fcad156 · Cited by 9 · see citing works

Adult phenotypes of genetic developmental and epileptic encephalopathies

Vakrinou, A., Pagni, S., Mills, J. D., Clayton, L. M. S., Balestrini, S., & Sisodiya, S. M. (2024) · Brain Communications · doi:10.1093/braincomms/fcaf028 · Cited by 8 · see citing works

How have the recent updated epilepsy classifications impacted on diagnosis and treatment?

Wirrell, E. C., Riney, K., Specchio, N., & Zuberi, S. M. (2023) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2023.2254937 · Cited by 8 · see citing works

Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol

Robertson, E. G., Kelada, L., Best, S., Goranitis, I., Grainger, N., Marne, F. A. L., Pierce, K., Nevin, S. M., Macintosh, R., Beavis, E., et al. (2022) · BMJ Open · doi:10.1136/bmjopen-2022-063249 · Cited by 7 · see citing works

Epilepsies

McTague, A., Scheffer, I. E., Kullmann, D. M., & Sisodiya, S. M. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-90820-7.00016-1 · Cited by 6 · see citing works

Developmental and epileptic encephalopathies

Gill, R. E., Ludwig, N. N., & Stafstrom, C. E. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-824060-1.00009-2 · Cited by 5 · see citing works

Trends and hotspots in gene research of epilepsy in children: A review and bibliometric analysis from 2010 to 2022

Tian, Y., Zhang, X.-L., Chen, H.-J., Li, C., Niu, L.-Q., Fu, Q., Rong, P., & Ma, R. (2023) · Medicine · doi:10.1097/md.0000000000034417 · Cited by 5 · see citing works

Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease

Patel, S. H., Panagiotakaki, E., Papadopoulou, M. T., Fons, C., Grandis, E. D., Vezyroglou, A., Balestrini, S., Hong, H., Liu, B., Prange, L., et al. (2023) · Journal of Child Neurology · doi:10.1177/08830738231197861 · Cited by 5 · see citing works

Precision Treatments in Epilepsy

Demarest, S., & Brooks‐Kayal, A. R. (2021) · Neurotherapeutics · doi:10.1007/s13311-021-01147-x · Cited by 5 · see citing works

The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study

Mastrangelo, M., Manti, F., Ricciardi, G., Bove, R., Greco, C., Tolve, M., & Pisani, F. (2024) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2024.109670 · Cited by 4 · see citing works

Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review

Cui, F., Wulan, T., Zhang, Q., Zhang, V. W., & Jiang, Y. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1371282 · Cited by 4 · see citing works

Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study

García‐Bravo, C., Palacios‐Ceña, D., Aledo‐Serrano, Á., Güeita‐Rodríguez, J., Velarde‐García, J. F., Cuenca‐Zaldívar, J. N., Marconnot, R., Alonso‐Blanco, C., Pérez‐Corrales, J., & Jiménez‐Antona, C. (2024) · Annals of Medicine · doi:10.1080/07853890.2024.2446702 · Cited by 3 · see citing works

Success stories: impactful applications of cancer biomarkers

Theivendren, P., Kunjiappan, S., Pavadai, P., Shanmugam, A., Karunanithi, K., Gopal, M., & Kiruthiga, N. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-29279-8.00015-6 · Cited by 3 · see citing works

A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease

Yam, M., Nassir, J., Galber, D., Quinn, S., Gal, R., Ovadia, M., Bordeynik‐Cohen, M., Peled, E., Makinson, C. D., Hausman‐Kedem, M., et al. (2025) · Brain · doi:10.1093/brain/awaf149 · Cited by 3 · see citing works

Development and Adaptive Function in Individuals With SCN2A -Related Disorders

Goad, B. S., Rodda, J., Allen, M., Bamborschke, D., Overmars, I., Kerr, R. S., Bushlin, I., Chopra, S., Coorg, R. K., Dabscheck, G., et al. (2025) · Neurology · doi:10.1212/wnl.0000000000213868 · Cited by 2 · see citing works

Add-on ketogenic diet versus antiseizure medications alone in children with developmental and epileptic encephalopathies: a prospective comparative cohort study

Hu, W., Li, L., Zhao, F. Q., Su, S., Zhang, H., & Li, X. (2025) · Frontiers in Neurology · doi:10.3389/fneur.2025.1677046 · Cited by 2 · see citing works

Clinical signatures of SYNGAP1- related disorders through data integrationPreprint

McKee, J. L., Magielski, J. H., Xian, J., Cohen, S. R., Toib, J., Chen, C., Kim, D., Rathod, A., Brimble, E., Fitter, N., et al. (2024) · medRxiv · doi:10.1101/2024.10.02.24314452 · Cited by 2 · see citing works

Understanding Developmental and Epileptic Encephalopathies

Taylor, J. (2024) · EMJ Neurology · doi:10.33590/emjneurol/10309291 · Cited by 1 · see citing works

Phenotypic and Genotypic Landscape of Epileptic Encephalopathies in Children with Seven Novel Variants: A Single Tertiary Care Hospital Experience

Javed, I., Khan, H. N., Sultan, T., & Wasim, M. (2025) · Neurochemical Journal · doi:10.1134/s1819712425700254 · Cited by 1 · see citing works

“Just realising that I wasn’t alone… was profound”: a mixed-methods evaluation of a pilot peer-to-peer wellbeing program for carers of children with rare epilepsies

Pierce, K., Murphy, J. B., Robertson, E. G., Khan, J. R., Bullock, S., O’Loughlin, C. B., Loden, M., McIntosh, R., Beavis, E., Roberts, N., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-04036-0 · Cited by 1 · see citing works

Dimensionality reduction of quantitative EEG and clinical profiles uncover associations with monogenic neurodevelopmental phenotypes in SNAREopathies

Sharma, A., Anand, S., Kooper, C. C., van Putten, M. J. A. M., Avrămiea, A.-E., Diachenko, M., Bouman, A., Mercken, W., Ramautar, J. R., Mansvelder, H. D., et al. (2026) · Frontiers in Neuroscience · doi:10.3389/fnins.2025.1725623 · Cited by 1 · see citing works

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices ( EILAT XVIII ). II . Treatments in more advanced clinical development

Bialer, M., Landmark, C. J., Koepp, M. J., Perucca, E., Perucca, P., Tomson, T., White, H. S., & Wirrell, E. C. (2026) · Epilepsia · doi:10.1002/epi.70346 · Cited by 1 · see citing works

An Enhanced Distributed Computational Platform for Developmental and Epileptic Encephalopathies

Cecchetti, G., Castoldi, P., Ruscelli, A. L., Dalmiani, S., Marcheschi, P., Pieroni, F., Galletti, D., Conti, V., & Guerrini, R. (2022) · IEEE International Conference on Pervasive Computing and Communications Workshops (PerCom Workshops) · doi:10.1109/percomworkshops53856.2022.9767273

Responding to the Need of the Hour: Natural History Studies

Joshi, C. (2022) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597221135963

Disease Models for Rare Genetic Disorders

Kanakarajan, S., Selvaraj, R., & Kaleena, P. K. (2024) · Springer eBooks · doi:10.1007/978-981-99-9323-9_4

“Just realising that I wasn’t alone... was profound”:A mixed-methods evaluation of a pilot peer-to-peer wellbeing program for carers of children with rare epilepsiesPreprint

Pierce, K., Murphy, J. B., Robertson, E. G., Khan, J. R., Bullock, S., O’Loughlin, C. B., Loden, M., McIntosh, R., Beavis, E., Roberts, N., et al. (2025) · Research Square · doi:10.21203/rs.3.rs-6249195/v1

Diagnosis and Treatment of Epilepsy Syndromes

Yan, Y., Wang, Y., Xiao, F., Wang, X., Zhang, H., Hu, Y., Luo, R., Jiang, L., Wu, Y., Liu, X., et al. (2025) · Springer eBooks · doi:10.1007/978-981-96-8520-2_5

The Evolving Landscape of Epilepsy Diagnosis and Management

Boreham, H. (2025) · EMJ Neurology · doi:10.33590/emjneurol/xzzr4971

Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies

Yılmaz, S., Durmuşalioğlu, E. A., Toprak, D. E., Kanmaz, S., Atık, T., Mutlu, M. B., Yiş, U., Yılmaz, Ü., Ünalp, A., Gökben, S., et al. (2026) · Journal of Medical Genetics · doi:10.1136/jmg-2026-111485

WWOX in brain development and disease: Molecular mechanisms and therapeutic opportunities

Obeid, M., Wang, J., Abudiab, B., Akkawi, R., & Aqeilan, R. I. (2026) · Neurobiology of Disease · doi:10.1016/j.nbd.2026.107446

Expanding the electroclinical spectrum of TANC2 ‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Perilli, L., Stipa, C., Villano, G., Licchetta, L., Strothmann, L., Jauss, R., Kluger, G. J., Minardi, R., Gobbi, G., Grosso, S., et al. (2026) · Epilepsia Open · doi:10.1002/epi4.70303

Genetic heterogeneity, movement disorders, and white matter abnormalities in pediatric developmental and epileptic encephalopathies: A retrospective cohort study from a National Neurodegenerative and Leukodystrophy Registry

Mohammadi, P., Fateh, S. T., Badv, R. S., Pak, N., Ashrafi, M. R., Heidari, M., Mohammadi, M., Zamani, G., Rezaei, Z., Nikbakht, S., et al. (2026) · Epilepsy Research · doi:10.1016/j.eplepsyres.2026.107868

Cerebrospinal fluid N-glycans as potential biosignatures for developmental and epileptic encephalopathy in children

Hu, C., Chen, Y., Liu, D., Liu, Y., Liu, X., Liu, X., & Liu, S. (2026) · International Journal of Biological Macromolecules · doi:10.1016/j.ijbiomac.2026.153660

Integrating rare and common variation in epilepsy genetics: from genetic architecture to penetrance and clinical expressivity

Cai, M.-S., Li, H.-R., Liao, P., Hu, Z., & Chen, Y.-J. (2026) · Frontiers in Genetics · doi:10.3389/fgene.2026.1902275

Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012–2022)

Maraval, J., Dampfhoffer, C., Journé, A., Poitevin, C., Asensio, M.-L., Sabour, N., Briffaut, A.-S., Lacombe, D., Spodenkiewicz, M., Geneviève, D., et al. (2026) · European Journal of Human Genetics · doi:10.1038/s41431-026-02242-3

Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care

Dudley, A. M., Widdess‐Walsh, P., Linehan, C., Andrade, D. M., Delanty, N., & Moloney, P. B. (2026) · Epilepsia Open · doi:10.1002/epi4.70359

Operational definition of developmental and epileptic encephalopathies to underpin the design of therapeutic trials

Scheffer, I. E., French, J. A., Valente, K. D. R., Auvin, S., Cross, J. H., & Specchio, N. (2025) · Epilepsia · doi:10.1111/epi.18265 · Cited by 62 · see citing works

The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives

Specchio, N., Trivisano, M., Aronica, E., Balestrini, S., Arzimanoglou, A. A., Colasante, G., Cross, J. H., Jóźwiak, S., Wilmshurst, J. M., Vigevano, F., et al. (2024) · The Lancet Child & Adolescent Health · doi:10.1016/s2352-4642(24)00196-2 · Cited by 35 · see citing works

Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care

Dudley, A. M., Widdess‐Walsh, P., Linehan, C., Andrade, D. M., Delanty, N., & Moloney, P. B. (2026) · Epilepsia Open · doi:10.1002/epi4.70359

Developmental and epileptic encephalopathies – therapeutic consequences of genetic testing

Syrbe, S. (2022) · Medizinische Genetik · doi:10.1515/medgen-2022-2145 · Cited by 11 · see citing works

Developmental and epileptic encephalopathies: etiology, diagnostic advances, and evolving management- a narrative review.

Shaik, S., Patel, S., Tahsin, S., Kaur, H., Easwar, K., Kumari, A., & Puri, J. K. (2026) · SJ Pediatrics and Child Health Africa · doi:10.51168/8p3tj762