Research & Literature

Seizure Action Plans Do Not Reduce Health Care Utilization in Pediatric Epilepsy Patients.

Roundy LM, Filloux FM, Kerr L, et al.

Journal of child neurology 2016; (31(4)):433-8 doi:10.1177/0883073815597755.

From unwitnessed fatality to witnessed rescue: Nonpharmacologic interventions in sudden unexpected death in epilepsy.

Rugg-Gunn F, Duncan J, Hjalgrim H, et al.

Epilepsia 2016; (57 Suppl 1()):26-34 doi:10.1111/epi.13231.

The clinical spectrum of Caspr2 antibody-associated disease.

van Sonderen A, Ariño H, Petit-Pedrol M, et al.

Neurology 2016; (87(5)):521-8 doi:10.1212/WNL.0000000000002917.

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.

Smogavec M, Cleall A, Hoyer J, et al.

Journal of medical genetics 2016; (53(12)):820-827 doi:10.1136/jmedgenet-2016-103880.

Practice Guideline Summary: Sudden Unexpected Death in Epilepsy Incidence Rates and Risk Factors: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.

Harden C, Tomson T, Gloss D, et al.

Epilepsy currents 2017; (17(3)):180-187 doi:10.5698/1535-7511.17.3.180.

Sleep problems in Dravet syndrome: a modifiable comorbidity.

Licheni SH, Mcmahon JM, Schneider AL, et al.

Developmental medicine and child neurology 2018; (60(2)):192-198 doi:10.1111/dmcn.13601.

Loss of Cntnap2 Causes Axonal Excitability Deficits, Developmental Delay in Cortical Myelination, and Abnormal Stereotyped Motor Behavior.

Scott R, Sánchez-Aguilera A, van Elst K, et al.

Cerebral cortex (New York, N.Y. : 1991) 2019; (29(2)):586-597 doi:10.1093/cercor/bhx341.

Immune or Genetic-Mediated Disruption of CASPR2 Causes Pain Hypersensitivity Due to Enhanced Primary Afferent Excitability.

Dawes JM, Weir GA, Middleton SJ, et al.

Neuron 2018; (97(4)):806-822.e10 doi:10.1016/j.neuron.2018.01.033.

Contactin-associated protein-like 2, a protein of the neurexin family involved in several human diseases.

Saint-Martin M, Joubert B, Pellier-Monnin V, et al.

The European journal of neuroscience 2018; (48(3)):1906-1923 doi:10.1111/ejn.14081.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Vlaskamp DRM, Shaw BJ, Burgess R, et al.

Neurology 2019; (92(2)):e96-e107 doi:10.1212/WNL.0000000000006729.

Disrupted AMPA Receptor Function upon Genetic- or Antibody-Mediated Loss of Autism-Associated CASPR2.

Fernandes D, Santos SD, Coutinho E, et al.

Cerebral cortex (New York, N.Y. : 1991) 2019; (29(12)):4919-4931 doi:10.1093/cercor/bhz032.

Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy".

Scheffer IE, Liao J

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020; (24()):11-14 doi:10.1016/j.ejpn.2019.12.023.

Nonconvulsive status epilepticus in epileptic encephalopathies in childhood.

Hamad AP, Ferrari-Marinho T, Caboclo LO, et al.

Seizure 2020; (80()):212-220 doi:10.1016/j.seizure.2020.06.024.

Nonseizure consequences of Dravet syndrome, KCNQ2-DEE, KCNB1-DEE, Lennox-Gastaut syndrome, ESES: A functional framework.

Berg AT, Gaebler-Spira D, Wilkening G, et al.

Epilepsy & behavior : E&B 2020; (111()):107287 doi:10.1016/j.yebeh.2020.107287.

Developmental and epileptic encephalopathies: what we do and do not know.

Specchio N, Curatolo P

Brain : a journal of neurology 2021; (144(1)):32-43 doi:10.1093/brain/awaa371.

Augmentative and Alternative Communication and Speech Production for Individuals with ASD: A Systematic Review.

White EN, Ayres KM, Snyder SK, et al.

Journal of autism and developmental disorders 2021; (51(11)):4199-4212 doi:10.1007/s10803-021-04868-2.

Gastrointestinal Symptoms and Channelopathy-Associated Epilepsy.

Beck VC, Isom LL, Berg AT

The Journal of pediatrics 2021; (237()):41-49.e1 doi:10.1016/j.jpeds.2021.06.034.

Defining Dravet syndrome: An essential pre-requisite for precision medicine trials.

Li W, Schneider AL, Scheffer IE

Epilepsia 2021; (62(9)):2205-2217 doi:10.1111/epi.17015.

Precision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies.

Myers KA, Scheffer IE

Annual review of pharmacology and toxicology 2022; (62()):641-662 doi:10.1146/annurev-pharmtox-052120-084449.

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants.

Scala M, Anijs M, Battini R, et al.

Italian journal of pediatrics 2021; (47(1)):208 doi:10.1186/s13052-021-01162-w.

Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.

Salinas V, Martínez N, Maturo JP, et al.

European journal of medical genetics 2021; (64(12)):104363 doi:10.1016/j.ejmg.2021.104363.

Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings.

Mittal R, Kumar A, Ladda R, et al.

Child neurology open 2021; (8()):2329048X211055330 doi:10.1177/2329048X211055330.

Augmentative and Alternative Communication in an Elementary School Setting: A Case Study.

Walker VL, Chung YC

Language, speech, and hearing services in schools 2022; (53(1)):167-180 doi:10.1044/2021_LSHSS-21-00052.

SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life.

Lo Barco T, De Gaetano L, Santangelo E, et al.

Epilepsy & behavior : E&B 2022; (127()):108500 doi:10.1016/j.yebeh.2021.108500.

A Practical Guide to the Treatment of Dravet Syndrome with Anti-Seizure Medication.

Strzelczyk A, Schubert-Bast S

CNS drugs 2022; (36(3)):217-237 doi:10.1007/s40263-022-00898-1.

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

Scheffer IE, Bennett CA, Gill D, et al.

Developmental medicine and child neurology 2023; (65(1)):50-57 doi:10.1111/dmcn.15308.

Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior.

Badshah N, Mattison KA, Ahmad S, et al.

Frontiers in neurology 2022; (13()):918022 doi:10.3389/fneur.2022.918022.

Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study.

Essajee F, Urban M, Smit L, et al.

Seizure 2022; (101()):197-204 doi:10.1016/j.seizure.2022.09.001.

Psychobehavioural and Cognitive Adverse Events of Anti-Seizure Medications for the Treatment of Developmental and Epileptic Encephalopathies.

Strzelczyk A, Schubert-Bast S

CNS drugs 2022; (36(10)):1079-1111 doi:10.1007/s40263-022-00955-9.

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

Perinelli MG, Riva A, Amadori E, et al.

Expert review of neurotherapeutics 2023; (23(1)):45-57 doi:10.1080/14737175.2023.2176221.

Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.

Donnan AM, Schneider AL, Russ-Hall S, et al.

Neurology 2023; (100(16)):e1712-e1722 doi:10.1212/WNL.0000000000207080.

Differential impacts of Cntnap2 heterozygosity and Cntnap2 null homozygosity on axon and myelinated fiber development in mouse.

Cifuentes-Diaz C, Canali G, Garcia M, et al.

Frontiers in neuroscience 2023; (17()):1100121 doi:10.3389/fnins.2023.1100121.

Written seizure action plans for adult patients with epilepsy: Distilling insights from emergency action plans for other chronic conditions.

Herman ST, Detyniecki K, O'Hara K, et al.

Epilepsy & behavior : E&B 2023; (140()):109002 doi:10.1016/j.yebeh.2022.109002.

Loss of CNTNAP2 Alters Human Cortical Excitatory Neuron Differentiation and Neural Network Development.

St George-Hyslop F, Haneklaus M, Kivisild T, Livesey FJ

Biological psychiatry 2023; (94(10)):780-791 doi:10.1016/j.biopsych.2023.03.014.

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

D'Onofrio G, Accogli A, Severino M, et al.

Human genetics 2023; (142(7)):909-925 doi:10.1007/s00439-023-02552-2.

Sleep and respiratory abnormalities in adults with developmental and epileptic encephalopathies using polysomnography and video-EEG monitoring.

Sivathamboo S, Myers KA, Pattichis A, et al.

Epilepsia open 2023; (8(3)):1157-1168 doi:10.1002/epi4.12772.

Parent-implemented augmented communication intervention and young children with Down syndrome: an exploratory report.

Romski M, Sevcik RA, Barton-Hulsey A, et al.

Frontiers in psychology 2023; (14()):1168599 doi:10.3389/fpsyg.2023.1168599.

A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family.

Naudhani S, Ahmad A, Khan Bazai F, et al.

Molecular syndromology 2023; (14(4)):293-302 doi:10.1159/000529427.

Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.

Panza N, Bianchini C, Cetica V, et al.

Epilepsia open 2024; (9(1)):417-423 doi:10.1002/epi4.12843.

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.

van Slobbe M, van Haeringen A, Vissers LELM, et al.

European journal of pediatrics 2024; (183(1)):345-355 doi:10.1007/s00431-023-05279-4.

Vagus nerve stimulation for treating developmental and epileptic encephalopathy in young children.

Geng G, Hu W, Meng Y, et al.

Frontiers in neurology 2023; (14()):1191831 doi:10.3389/fneur.2023.1191831.

Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.

Amin S, Møller RS, Aledo-Serrano A, et al.

Epilepsia open 2024; (9(3)):832-849 doi:10.1002/epi4.12914.

The Brain Gene Registry: a data snapshot.

Baldridge D, Kaster L, Sancimino C, et al.

Journal of neurodevelopmental disorders 2024; (16(1)):17 doi:10.1186/s11689-024-09530-3.

Caregiver perceptions of the impact of Dravet syndrome on the family, current supports and hopes and fears for the future: A qualitative study.

Soto Jansson J, Bjurulf B, Dellenmark Blom M, et al.

Epilepsy & behavior : E&B 2024; (156()):109790 doi:10.1016/j.yebeh.2024.109790.

Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases.

Bowman P, Grimes H, Dallosso AR, et al.

Developmental medicine and child neurology 2025; (67(1)):126-131 doi:10.1111/dmcn.15985.

Genetic Testing in Pediatric Epilepsy: Tools, Tips, and Navigating the Traps.

Chowdhury SR, Whitney R, RamachandranNair R, et al.

Pediatric neurology 2024; (157()):42-49 doi:10.1016/j.pediatrneurol.2024.05.008.

The impact of developmental and epileptic encephalopathies on families: a qualitative study.

Velarde-García JF, Güeita-Rodríguez J, Jiménez-Antona C, et al.

European journal of pediatrics 2024; (183(9)):4103-4110 doi:10.1007/s00431-024-05677-2.

Overview of clinical and physiologic aspects of status epilepticus in the developmental and epileptic encephalopathies.

Wirrell EC

Epilepsy & behavior : E&B 2024; (159()):109950 doi:10.1016/j.yebeh.2024.109950.

Update review on SUDEP: Risk assessment, background & seizure detection devices.

Monté CPJA, Arends JBAM, Lazeron RHC, et al.

Epilepsy & behavior : E&B 2024; (160()):109966 doi:10.1016/j.yebeh.2024.109966.

Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A.

Mammadova D, Kraus C, Leis T, et al.

Frontiers in neurology 2024; (15()):1458109 doi:10.3389/fneur.2024.1458109.

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal.

Barcia G, Scorrano G, Rio M, et al.

European journal of medical genetics 2024; (72()):104979 doi:10.1016/j.ejmg.2024.104979.

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

Garcia-Bravo C, Palacios-Ceña D, Aledo-Serrano Á, et al.

Annals of medicine 2025; (57(1)):2446702 doi:10.1080/07853890.2024.2446702.

Influence of Risk Factor Combinations on Incidence Rates of SUDEP: A Population-Based Study.

Tomson T, Andersson T, Carlsson S, Sveinsson O

Neurology 2025; (104(5)):e213372 doi:10.1212/WNL.0000000000213372.

The epilepsy-autism phenotype associated with developmental and epileptic encephalopathies: New mechanism-based therapeutic options.

Specchio N, Di Micco V, Aronica E, et al.

Epilepsia 2025; (66(4)):970-987 doi:10.1111/epi.18209.

The effects of the DHACA method on expressive communication in children with autism spectrum disorder.

Barbosa FCOL, Montenegro ACA, Queiroga BAM

CoDAS 2025; (37(3)):e20240148 doi:10.1590/2317-1782/e20240148pt.

Dissociating the Effects of Light at Night from Circadian Misalignment in a Neurodevelopmental Disorder Mouse Model Using Ultradian Light-Dark Cycles.

Villanueva SAMB, Wang HB, Nguyen-Ngo K, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.07.04.663193.

Genetic testing for diagnosing neurodevelopmental disorders and epilepsy: a systematic review and meta-analysis.

Chang YM, Huang YT, Lai PC

Systematic reviews 2025; (14(1)):155 doi:10.1186/s13643-025-02896-y.

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, et al.

Frontiers in neurology 2025; (16()):1677046 doi:10.3389/fneur.2025.1677046.

Systematic review of indirect costs to families of children with developmental epileptic encephalopathies.

Abdelmageed S, Du RY, Carroll M, et al.

Orphanet journal of rare diseases 2025; (20(1)):579 doi:10.1186/s13023-025-04081-9.

Technical Neurosurgical Aspects of Pediatric Epilepsy Surgery Including Resections and Disconnections.

Botros D, Warsi NM, Bollo RJ

Pediatric neurosurgery 2026; (61(1)):49-55 doi:10.1159/000549430.

Practical consensus recommendations for polytherapy involving stiripentol in Dravet syndrome: A nominal group approach.

Cross JH, Nabbout R, Gidal B, et al.

Epilepsia open 2026; (11(3)):833-846 doi:10.1002/epi4.70245.

Psychological and health-related quality of life outcomes in children with developmental and epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS): A single-center prospective study.

Sahu A, Sharma R, Lal G, Saini AG

Epilepsy research 2026; (224()):107794 doi:10.1016/j.eplepsyres.2026.107794.

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

Munro JE, Thiyagarajah H, Bennett MF, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.04.24.26351703.

Beyond seizures: proceedings of the ERN EpiCARE working group 18 on developmental and epileptic encephalopathies.

De Giorgis V, Dalla Bernardina B, Brambilla I, et al.

Epilepsy & behavior : E&B 2026; (182()):111112 doi:10.1016/j.yebeh.2026.111112.

The Hidden Cost of Developmental and Epileptic Encephalopathy in Australia: Caregiver Quality of Life, Sleep, Depression, and Workforce Participation.

Kim H, Jones A, Lyu J, Lee L

Pediatric neurology 2026; (182()):21-27 doi:10.1016/j.pediatrneurol.2026.06.001.

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.

Licchetta L, Bruschi G, Giangregorio T, et al.

Epilepsia 2026; (67(9)):e141-e149 doi:10.1002/epi.70360.

The psychosocial supports and interventions accessed by family members of patients with developmental and epileptic encephalopathies: A systematic review.

Smith MC, Wang Q, Pierce KE, et al.

Epilepsy & behavior : E&B 2026; (184()):111185 doi:10.1016/j.yebeh.2026.111185.

Caregiver burden and care context in families with Dravet syndrome - a nationwide study in the Czech Republic.

Búřilová P, Vinklárek J, Búřil J, et al.

Epilepsy & behavior : E&B 2026; (184()):111216 doi:10.1016/j.yebeh.2026.111216.

Assessing Communication in Children with Complex Communication Needs: Development of the Italian IVCAA Structured Interview.

Rinaldi S, Gazzola S, Maggiulli C, et al.

Children (Basel, Switzerland) 2026; (13(8)) doi:10.3390/children13081051.

CNTNAP2 in neurodevelopmental disorders: Genetics, excitation/inhibition mechanisms and preclinical evidence.

Dhungel A, Bora R, Chamidah AN, Menge DM

Molecular and cellular neurosciences 2026; (139()):104127 doi:10.1016/j.mcn.2026.104127.

Knowledge, attitudes, and seizure first aid for childhood epilepsy among the Madinah community, Saudi Arabia.

Alsaedi JK, Althobaiti S, Alhejaili NM, et al.

Frontiers in public health 2026; (14()):1858918 doi:10.3389/fpubh.2026.1858918.

Characterizing sleep disturbances in developmental and epileptic encephalopathies through natural language processing: A retrospective monocentric study.

Barco TL, Douillet M, Chemaly N, et al.

Epilepsia 2026; doi:10.1002/epi.70485.

Beyond seizures: the hidden burden of developmental epileptic encephalopathies.

Dell'Isola GB, Sorrentino M, Massara S, et al.

Frontiers in neurology 2026; (17()):1960314 doi:10.3389/fneur.2026.1960314.

Clinical Interpretation of Genetic Testing in Pediatric Pulmonary Arterial Hypertension: From Molecular Findings to Action.

Zheng X, Hua Y

Clinical genetics 2026; doi:10.1111/cge.70266.