Research & Literature

A definition and classification of status epilepticus--Report of the ILAE Task Force on Classification of Status Epilepticus.

Trinka E, Cock H, Hesdorffer D, et al.

Epilepsia 2015; (56(10)):1515-23 doi:10.1111/epi.13121.

Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

Goldstein JH, Tim-Aroon T, Shieh J, et al.

European journal of medical genetics 2015; (58(10)):562-8.

Evidence-Based Guideline: Treatment of Convulsive Status Epilepticus in Children and Adults: Report of the Guideline Committee of the American Epilepsy Society.

Glauser T, Shinnar S, Gloss D, et al.

Epilepsy currents 2016; (16(1)):48-61 doi:10.5698/1535-7597-16.1.48.

The Cohesin Release Factor WAPL Restricts Chromatin Loop Extension.

Haarhuis JHI, van der Weide RH, Blomen VA, et al.

Cell 2017; (169(4)):693-707.e14 doi:10.1016/j.cell.2017.04.013.

Phenotypes and genotypes in individuals with SMC1A variants.

Huisman S, Mulder PA, Redeker E, et al.

American journal of medical genetics. Part A 2017; (173(8)):2108-2125 doi:10.1002/ajmg.a.38279.

Review article: Paediatric status epilepticus in the pre-hospital setting: An update.

Furyk J, Watt K, Emeto TI, et al.

Emergency medicine Australasia : EMA 2017; (29(4)):383-390 doi:10.1111/1742-6723.12824.

Suppressor screening reveals common kleisin-hinge interaction in condensin and cohesin, but different modes of regulation.

Xu X, Yanagida M

Proceedings of the National Academy of Sciences of the United States of America 2019; (116(22)):10889-10898 doi:10.1073/pnas.1902699116.

Cohesin complex-associated holoprosencephaly.

Kruszka P, Berger SI, Casa V, et al.

Brain : a journal of neurology 2019; (142(9)):2631-2643 doi:10.1093/brain/awz210.

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.

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.

Rochtus A, Olson HE, Smith L, et al.

Epilepsia 2020; (61(2)):249-258 doi:10.1111/epi.16427.

The multiple facets of the SMC1A gene.

Musio A

Gene 2020; (743()):144612 doi:10.1016/j.gene.2020.144612.

Epilepsy Surgery is a Viable Treatment for Lennox Gastaut Syndrome.

Keator CG

Seminars in pediatric neurology 2021; (38()):100894 doi:10.1016/j.spen.2021.100894.

Phenotypic spectrum and long-term outcome of children with genetic early-infantile-onset developmental and epileptic encephalopathy.

Hu C, Liu D, Luo T, et al.

Epileptic disorders : international epilepsy journal with videotape 2022; (24(2)):343-352 doi:10.1684/epd.2021.1394.

Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.

Barañano KW, Kimball A, Fong SL, et al.

Journal of child neurology 2022; (37(5)):390-396 doi:10.1177/08830738221081244.

[Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review].

Ye YZ, Duan J, Hu ZQ, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2022; (60(6)):583-587 doi:10.3760/cma.j.cn112140-20211126-00994.

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.

Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.

Bozarth XL, Lopez J, Fang H, et al.

Genes 2023; (14(4)) doi:10.3390/genes14040852.

Status Epilepticus.

Freedman DA, Roach ES

Pediatrics in review 2023; (44(7)):383-392 doi:10.1542/pir.2022-005632.

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.

Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation.

Parmeggiani L, Stanzial F, Menna E, et al.

Epilepsy & behavior reports 2023; (24()):100634 doi:10.1016/j.ebr.2023.100634.

SMC1A epilepsy syndrome: clinical data from a large international cohort.

Gibellato E, Cianci P, Mariani M, et al.

American journal of medical genetics. Part A 2024; (194(7)):e63577 doi:10.1002/ajmg.a.63577.

Video-electroencephalographic findings and clinical characteristics of bathing seizures in children.

Kuang X, Liao H, Fang H, et al.

Frontiers in neurology 2024; (15()):1366206 doi:10.3389/fneur.2024.1366206.

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.

Successful Hemispherotomy in a Patient With 22q11.2 Deletion Syndrome Who Had Developmental and Epileptic Encephalopathy With Spike-and-Wave Activation During Sleep.

Yamada N, Kuki I, Uda T, Okazaki S

Cureus 2024; (16(4)):e58424 doi:10.7759/cureus.58424.

Outpatient management of prolonged seizures and seizure clusters to prevent progression to a higher-level emergency: Consensus recommendations of an expert working group.

Pina-Garza JE, Chez M, Cloyd J, et al.

Epileptic disorders : international epilepsy journal with videotape 2024; (26(4)):484-497 doi:10.1002/epd2.20243.

Survey of rehabilitation approaches and plans for individuals with dravet syndrome (RAPIDS) in Italy: Current practices and strategies to progress.

Porto C, Perulli M, Arpaia C, et al.

Epilepsy & behavior : E&B 2024; (157()):109888 doi:10.1016/j.yebeh.2024.109888.

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

Specchio N, Trivisano M, Aronica E, et al.

The Lancet. Child & adolescent health 2024; (8(11)):821-834 doi:10.1016/S2352-4642(24)00196-2.

To what extent does status epilepticus contribute to brain damage in the developmental and epileptic Encephalopathies.

Specchio N, Auvin S

Epilepsy & behavior : E&B 2025; (164()):110271 doi:10.1016/j.yebeh.2025.110271.

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

Downs J, Haywood S, Ludwig NN, et al.

Developmental medicine and child neurology 2025; (67(12)):1616-1627 doi:10.1111/dmcn.16363.

Seminars in epileptology: How to diagnose status epilepticus in adults and children.

Leitinger M, Bosque-Varela P, Kuchukhidze G, et al.

Epileptic disorders : international epilepsy journal with videotape 2025; (27(4)):530-549 doi:10.1002/epd2.70033.

Epilepsy phenotype and developmental outcome in girls with mosaicism in X-linked neurodevelopmental disorders.

Carapancea E, Eizadkhah D, Santalucia R, et al.

Epileptic disorders : international epilepsy journal with videotape 2025; (27(5)):1011-1020 doi:10.1002/epd2.70058.

Childhood epilepsy.

Menon RN, Helen Cross J

Lancet (London, England) 2025; (406(10503)):636-649 doi:10.1016/S0140-6736(25)00773-1.

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.

Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.

Astorino MF, Speranza D, Luppino G, et al.

Genes 2025; (16(10)) doi:10.3390/genes16101196.

Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.

Di Nardo M, Sardina F, Pallotta MM, et al.

Epilepsia 2026; (67(6)):3185-3198 doi:10.1002/epi.70150.

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.

Master Regulator SMC1A, Stabilized by N6-Methyladenosine Reader IGF2BP1, Promotes HCC Progression Through Facilitating Enhancer-Promoter Interaction of Nestin.

Peng Z, Wen D, Zeng L, et al.

Advanced science (Weinheim, Baden-Wurttemberg, Germany) 2026; (13(43)):e75616 doi:10.1002/advs.75616.