Research & Literature

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.

Carvill GL, McMahon JM, Schneider A, et al.

American journal of human genetics 2015; (96(5)):808-15.

Paradoxical exacerbation of myoclonic-astatic seizures by levetiracetam in myoclonic astatic epilepsy.

Makke Y, Hmaimess G, Nasreddine W, et al.

BMC pediatrics 2015; (15()):6 doi:10.1186/s12887-015-0330-y.

CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.

Trivisano M, Striano P, Sartorelli J, et al.

Epilepsy & behavior : E&B 2015; (51()):53-6.

Seizure-related injuries in children and adolescents with epilepsy.

Lagunju IA, Oyinlade AO, Babatunde OD

Epilepsy & behavior : E&B 2016; (54()):131-4.

Status Epilepticus: Epidemiology and Public Health Needs.

Sánchez S, Rincon F

Journal of clinical medicine 2016; (5(8)).

Modified Atkins diet is an effective treatment for children with Doose syndrome.

Wiemer-Kruel A, Haberlandt E, Hartmann H, et al.

Epilepsia 2017; (58(4)):657-662 doi:10.1111/epi.13701.

Efficacy of a ketogenic diet in resistant myoclono-astatic epilepsy: A French multicenter retrospective study.

Stenger E, Schaeffer M, Cances C, et al.

Epilepsy research 2017; (131()):64-69 doi:10.1016/j.eplepsyres.2017.02.005.

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

Wolff M, Johannesen KM, Hedrich UBS, et al.

Brain : a journal of neurology 2017; (140(5)):1316-1336 doi:10.1093/brain/awx054.

Diagnosis switching and outcomes in a cohort of patients with potential epilepsy with myoclonic-atonic seizures.

Eschbach K, Moss A, Joshi C, et al.

Epilepsy research 2018; (147()):95-101 doi:10.1016/j.eplepsyres.2018.09.011.

Emergency Management of Epilepsy and Seizures.

Bank AM, Bazil CW

Seminars in neurology 2019; (39(1)):73-81 doi:10.1055/s-0038-1677008.

SUDEP in the North American SUDEP Registry: The full spectrum of epilepsies.

Verducci C, Hussain F, Donner E, et al.

Neurology 2019; (93(3)):e227-e236 doi:10.1212/WNL.0000000000007778.

Adolescent-onset absence epilepsy years after resolution of childhood epilepsy with myoclonic-atonic seizures.

Berth SH, Kossoff EH

Epilepsy & behavior reports 2019; (12()):100329 doi:10.1016/j.ebr.2019.100329.

Usefulness of preschool and school versions of the Behavioral Rating Inventory of Executive Functions in the evaluation of the daily life executive function in myoclonic-atonic epilepsy.

Breuillard D, Jambaqué I, Laschet J, Nabbout R

Epilepsy & behavior : E&B 2019; (99()):106482 doi:10.1016/j.yebeh.2019.106482.

SCN1A-related phenotypes: Epilepsy and beyond.

Scheffer IE, Nabbout R

Epilepsia 2019; (60 Suppl 3()):S17-S24 doi:10.1111/epi.16386.

Dravet Syndrome: A Review of Current Management.

Wheless JW, Fulton SP, Mudigoudar BD

Pediatric neurology 2020; (107()):28-40 doi:10.1016/j.pediatrneurol.2020.01.005.

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.

Tang S, Addis L, Smith A, et al.

Epilepsia 2020; (61(5)):995-1007 doi:10.1111/epi.16508.

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.

Burden and Its Predictors among Caregivers of Patient with Epilepsy.

Pokharel R, Poudel P, Lama S, et al.

Journal of epilepsy research 2020; (10(1)):24-30 doi:10.14581/jer.20005.

Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.

Nickels K, Kossoff EH, Eschbach K, Joshi C

Epilepsia 2021; (62(1)):120-127 doi:10.1111/epi.16752.

Results of an international Delphi consensus in epilepsy with myoclonic atonic seizures/ Doose syndrome.

Joshi C, Nickels K, Demarest S, et al.

Seizure 2021; (85()):12-18 doi:10.1016/j.seizure.2020.11.017.

Epilepsy with myoclonic-atonic seizures, also known as Doose syndrome: Modification of the diagnostic criteria.

Oguni H

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2022; (36()):37-50 doi:10.1016/j.ejpn.2021.11.009.

SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Ding J, Li X, Tian H, et al.

Frontiers in neurology 2021; (12()):743726 doi:10.3389/fneur.2021.743726.

The efficacy of non-fasting ketogenic diet protocol in the management of intractable epilepsy in pediatric patients: a single center study from Saudi Arabia.

Alameen Ali H, Muthaffar O, AlKarim N, et al.

The Journal of international medical research 2022; (50(3)):3000605221081714 doi:10.1177/03000605221081714.

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.

Specchio N, Wirrell EC, Scheffer IE, et al.

Epilepsia 2022; (63(6)):1398-1442 doi:10.1111/epi.17241.

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brunklaus A, Brünger T, Feng T, et al.

Brain : a journal of neurology 2022; (145(11)):3816-3831 doi:10.1093/brain/awac210.

Parents'/caregivers' fears and concerns about their child's epilepsy: A scoping review.

Carter B, Cook G, Bray L, et al.

PloS one 2022; (17(9)):e0274001 doi:10.1371/journal.pone.0274001.

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.

Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.

Poke G, Stanley J, Scheffer IE, Sadleir LG

Neurology 2023; (100(13)):e1363-e1375 doi:10.1212/WNL.0000000000206758.

Duration of epileptic seizure types: A data-driven approach.

Meritam Larsen P, Wüstenhagen S, Terney D, et al.

Epilepsia 2023; (64(2)):469-478 doi:10.1111/epi.17492.

Case report: Alexander's disease with "head drop" as the main symptom and literature review.

Yuan Y, Wu Q, Huo L, et al.

Frontiers in neurology 2022; (13()):1002527 doi:10.3389/fneur.2022.1002527.

A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation.

Mori T, Sakamoto M, Tayama T, et al.

Brain & development 2023; (45(7)):395-400 doi:10.1016/j.braindev.2023.03.001.

Current and emerging pharmacotherapy for the treatment of Lennox-Gastaut syndrome.

Besag FMC, Vasey MJ, Chin RFM

Expert opinion on pharmacotherapy 2023; (24(11)):1249-1268 doi:10.1080/14656566.2023.2215924.

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.

Proposed anti-seizure medication combinations with rufinamide in the treatment of Lennox-Gastaut syndrome: Narrative review and expert opinion.

Sankar R, Chez M, Pina-Garza JE, et al.

Seizure 2023; (110()):42-57 doi:10.1016/j.seizure.2023.05.018.

Management of epilepsy with eyelid myoclonia: Results of an international expert consensus panel.

Smith KM, Wirrell EC, Andrade DM, et al.

Epilepsia 2023; (64(9)):2342-2350 doi:10.1111/epi.17682.

Refractory tonic-myoclonic status epilepticus with catamenial recurrence in epilepsy with myoclonic atonic seizures: A case report.

Proietti J, Fiorini E, Cantalupo G, et al.

Heliyon 2024; (10(2)):e24747 doi:10.1016/j.heliyon.2024.e24747.

Efficacy of felbamate in a cohort of patients with epilepsy with myoclonic atonic seizures (EMAtS).

Reed L, Ciliberto M, Fong SL, et al.

Epilepsy research 2024; (201()):107314 doi:10.1016/j.eplepsyres.2024.107314.

Impact of and research priorities in early onset epilepsy: An investigation of parental concerns.

Lindsay N, Martin J, Adegboye D, et al.

Epilepsy & behavior : E&B 2024; (156()):109794 doi:10.1016/j.yebeh.2024.109794.

Population-based study of rare epilepsy incidence in a US urban population.

Barbour K, Tian N, Yozawitz EG, et al.

Epilepsia 2024; (65(8)):2341-2353 doi:10.1111/epi.18029.

Ketogenic diet therapy for the treatment of pediatric epilepsy.

Haridas B, Testino A, Kossoff EH

Epileptic disorders : international epilepsy journal with videotape 2025; (27(2)):144-155 doi:10.1002/epd2.20320.

Felbamate as a therapeutic alternative to drug-resistant genetic generalized epilepsy: a systematic review and meta-analysis.

Ma Y, Kaminski M, Crutcher R

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(4)):1565-1572 doi:10.1007/s10072-024-07942-6.

Impact of vagus nerve stimulation on refractory epilepsy with myoclonic atonic seizures: Case series insights.

Jaafar F, Kaufman C, Abdelmoity L, et al.

Seizure 2025; (127()):25-28 doi:10.1016/j.seizure.2025.02.014.

Epilepsy with myoclonic-atonic seizures: an update on genetic causes, nosological limits, and treatment strategies.

Guerrini R, Scheffer I, Balestrini S

The Lancet. Neurology 2025; (24(4)):348-360 doi:10.1016/S1474-4422(25)00032-8.

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Barcia G, Chemaly N, Gobin-Limballe S, et al.

Epilepsia open 2025; (10(4)):1065-1073 doi:10.1002/epi4.70057.

Sudden Unexpected Death in Epilepsy: A Narrative Review of Mechanism, Risks, and Prevention.

Jiang RY, Varughese RT, Kothare SV

Journal of clinical medicine 2025; (14(10)) doi:10.3390/jcm14103329.

A new developmental and epileptic encephalopathy: PUM1-neurodevelopmental disorder with epilepsy with myoclonic-atonic seizures.

Marin R, Rulo G, Andrade DM, et al.

Seizure 2025; (131()):16-21 doi:10.1016/j.seizure.2025.05.018.

Epileptic drop attacks: More than just atonic seizures.

Ono T, Sato K, Honda R, Otsubo H

Epilepsia open 2025; doi:10.1002/epi4.70136.

Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicators.

Pellacani S, Balestrini S, Fino E, et al.

Brain communications 2026; (8(1)):fcaf507 doi:10.1093/braincomms/fcaf507.

Sudden unexpected death in epilepsy (SUDEP): Risk management of pediatric patients with epilepsy.

Lutz L, Becker LL, Koch A, Kaindl AM

Epilepsia open 2026; (11(2)):422-434 doi:10.1002/epi4.70214.

Recommendations for the community-based management of prolonged convulsive seizures in children in Europe.

Vigevano F, Arzimanoglou A, Auvin S, et al.

BMC pediatrics 2026; (26(1)):135.

Dynamic thalamo-cortical perfusion changes in myoclonic-atonic seizures captured by ictal technetium-99m ethyl cysteinate dimer single-photon emission computed tomography: A case report.

Matsuura R, Hamano SI, Oba A, et al.

Brain & development 2026; (48(3)):104537 doi:10.1016/j.braindev.2026.104537.

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations.

Khamis A, Ricci E, Canevini MP, et al.

Epilepsia 2026; (67(8)):3852-3862 doi:10.1002/epi.70266.

First corpus callosotomy for medically refractory epilepsy in The Gambia: an international cooperation case report and historical review.

Gal ZT, Manneh EK, Gupta S, et al.

Acta epileptologica 2026; (8(1)).

Clobazam in pediatric drug-resistant epilepsy: from pharmacology to clinical practice.

Wan J, Yu Y, Liu X, et al.

European journal of clinical pharmacology 2026; (82(9)).

Epilepsy with myoclonic-atonic seizures: a comprehensive review with emphasis on current and emerging pharmacotherapies.

Samanta D

Expert review of neurotherapeutics 2026; 1-15 doi:10.1080/14737175.2026.2735961.