Research & Literature

Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life.

Townend GS, Bartl-Pokorny KD, Sigafoos J, et al.

Research in developmental disabilities 2015; (43-44()):80-6.

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

Tarquinio DC, Hou W, Neul JL, et al.

Pediatric neurology 2015; (53(5)):402-11.

A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE.

Güngör O, Kirik S, Cevizli D, et al.

Genetic counseling (Geneva, Switzerland) 2015; (26(4)):387-92.

MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.

Zahorakova D, Lelkova P, Gregor V, et al.

Journal of human genetics 2016; (61(7)):617-25 doi:10.1038/jhg.2016.19.

Modeling Rett Syndrome Using Human Induced Pluripotent Stem Cells.

Andoh-Noda T, Inouye MO, Miyake K, et al.

CNS & neurological disorders drug targets 2016; (15(5)):544-50 doi:10.2174/1871527315666160413120156.

Clapping-surpressed focal spikes in EEG may be unique for the patients with rett syndrome : a case report.

Lv Y, Liu C, Shi M, Cui L

BMC neurology 2016; (16()):91 doi:10.1186/s12883-016-0613-4.

Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes.

Ehrhart F, Coort SL, Cirillo E, et al.

Orphanet journal of rare diseases 2016; (11(1)):158 doi:10.1186/s13023-016-0545-5.

4-hydroxynonenal protein adducts: Key mediator in Rett syndrome oxinflammation.

Valacchi G, Pecorelli A, Cervellati C, Hayek J

Free radical biology & medicine 2017; (111()):270-280 doi:10.1016/j.freeradbiomed.2016.12.045.

Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan.

Chin Wong L, Hung PL, Jan TY, et al.

Autism research : official journal of the International Society for Autism Research 2017; (10(7)):1204-1214 doi:10.1002/aur.1774.

Sustained attention in the face of distractors: A study of children with Rett syndrome.

Rose SA, Wass S, Jankowski JJ, et al.

Neuropsychology 2017; (31(4)):403-410 doi:10.1037/neu0000369.

FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome.

Byun CK, Lee JS, Lim BC, et al.

Child neurology open 2015; (2(1)):2329048X14568151 doi:10.1177/2329048X14568151.

An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.

Epperson MV, Haws ME, Standridge SM, Gilbert DL

Journal of child neurology 2018; (33(4)):286-289 doi:10.1177/0883073818754987.

MECP2 mutation in a boy with severe apnea and sick sinus syndrome.

Shioda T, Takahashi S, Kaname T, et al.

Brain & development 2018; (40(8)):714-718 doi:10.1016/j.braindev.2018.03.008.

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.

Vineeth VS, Dutta UR, Tallapaka K, et al.

Gene 2018; (673()):56-60 doi:10.1016/j.gene.2018.06.045.

Epilepsy in classic Rett syndrome: Course and characteristics in adult age.

Henriksen MW, Breck H, von Tetzchner S, et al.

Epilepsy research 2018; (145()):134-139 doi:10.1016/j.eplepsyres.2018.06.012.

Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.

SoRelle JA, Thodeson DM, Arnold S, et al.

JAMA pediatrics 2019; (173(1)):e182302 doi:10.1001/jamapediatrics.2018.2302.

Psychomotor Dysfunction in Rett Syndrome: Insights into the Neurochemical and Circuit Roots.

Liao W

Developmental neurobiology 2019; (79(1)):51-59 doi:10.1002/dneu.22651.

The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.

Neul JL, Benke TA, Marsh ED, et al.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2019; (180(1)):55-67 doi:10.1002/ajmg.b.32707.

Biliary Tract Disease in Girls and Young Women With Rett Syndrome.

Motil KJ, Lane JB, Barrish JO, et al.

Journal of pediatric gastroenterology and nutrition 2019; (68(6)):799-805 doi:10.1097/MPG.0000000000002273.

Attentional shifting and disengagement in Rett syndrome.

Rose SA, Wass S, Jankowski JJ, et al.

Neuropsychology 2019; (33(3)):335-342 doi:10.1037/neu0000515.

Rett syndrome: from recognition to diagnosis to intervention.

Percy AK

Expert review of endocrinology & metabolism 2008; (3(3)):327-336 doi:10.1586/17446651.3.3.327.

Treating Rett syndrome: from mouse models to human therapies.

Vashi N, Justice MJ

Mammalian genome : official journal of the International Mammalian Genome Society 2019; (30(5-6)):90-110 doi:10.1007/s00335-019-09793-5.

Epilepsy and genetic in Rett syndrome: A review.

Operto FF, Mazza R, Pastorino GMG, et al.

Brain and behavior 2019; (9(5)):e01250 doi:10.1002/brb3.1250.

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.

Stallworth JL, Dy ME, Buchanan CB, et al.

Neurology 2019; (92(22)):e2594-e2603 doi:10.1212/WNL.0000000000007560.

Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome.

Strugnell A, Leonard H, Epstein A, Downs J

Disability and rehabilitation 2020; (42(26)):3800-3807 doi:10.1080/09638288.2019.1610801.

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.

Vidal S, Xiol C, Pascual-Alonso A, et al.

International journal of molecular sciences 2019; (20(16)) doi:10.3390/ijms20163925.

Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic.

Kadam SD, Sullivan BJ, Goyal A, et al.

International journal of molecular sciences 2019; (20(20)) doi:10.3390/ijms20205098.

Clinical Feature and Genetics in Rett Syndrome: A Report on Iranian Patients.

Karimzadeh P, Kheirollahi M, Houshmand SM, et al.

Iranian journal of child neurology 2019; (13(4)):37-51.

Compromised immune/inflammatory responses in Rett syndrome.

Pecorelli A, Cervellati C, Cordone V, et al.

Free radical biology & medicine 2020; (152()):100-106 doi:10.1016/j.freeradbiomed.2020.02.023.

Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome.

Henriksen MW, Breck H, Sejersted Y, et al.

Brain & development 2020; (42(7)):484-495 doi:10.1016/j.braindev.2020.03.008.

MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort.

Wen Y, Wang J, Zhang Q, et al.

Clinical genetics 2020; (98(3)):240-250 doi:10.1111/cge.13790.

Dental procedure under opioid-free balanced anaesthesia in a child with Rett syndrome who convulsed on every attempt to feed: Case report.

Ponde V, Desai A, Ekambaram K, Thakur S

Indian journal of anaesthesia 2020; (64(4)):325-327 doi:10.4103/ija.IJA_812_19.

Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.

Katayama S, Sueyoshi N, Inazu T, Kameshita I

Neural plasticity 2020; (2020()):6970190 doi:10.1155/2020/6970190.

Consensus guidelines on managing Rett syndrome across the lifespan.

Fu C, Armstrong D, Marsh E, et al.

BMJ paediatrics open 2020; (4(1)):e000717 doi:10.1136/bmjpo-2020-000717.

Multisystem comorbidities in classic Rett syndrome: a scoping review.

Fu C, Armstrong D, Marsh E, et al.

BMJ paediatrics open 2020; (4(1)):e000731 doi:10.1136/bmjpo-2020-000731.

A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance.

Lee HM, Kuijer MB, Ruiz Blanes N, et al.

Journal of neurodevelopmental disorders 2020; (12(1)):29 doi:10.1186/s11689-020-09332-3.

Oral Manifestations of Rett Syndrome-A Systematic Review.

Mahdi SS, Jafri HA, Allana R, et al.

International journal of environmental research and public health 2021; (18(3)) doi:10.3390/ijerph18031162.

Deciphering the roles of glycogen synthase kinase 3 (GSK3) in the treatment of autism spectrum disorder and related syndromes.

Rizk M, Saker Z, Harati H, et al.

Molecular biology reports 2021; (48(3)):2669-2686 doi:10.1007/s11033-021-06237-9.

Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review.

Mojtabavi H, Fatehi F, Shahkarami S, et al.

Journal of molecular neuroscience : MN 2021; (71(12)):2526-2533 doi:10.1007/s12031-021-01822-w.

Measures of attention in Rett syndrome: Internal consistency reliability.

Rose SA, Wass SV, Jankowski JJ, Djukic A

Neuropsychology 2021; (35(6)):595-608 doi:10.1037/neu0000744.

Altered Bone Status in Rett Syndrome.

Pecorelli A, Cordone V, Schiavone ML, et al.

Life (Basel, Switzerland) 2021; (11(6)) doi:10.3390/life11060521.

Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study.

Bisgaard AM, Wong K, Højfeldt AK, et al.

American journal of medical genetics. Part A 2021; (185(12)):3683-3693 doi:10.1002/ajmg.a.62429.

Rett syndrome: think outside the (skull) box.

Borloz E, Villard L, Roux JC

Faculty reviews 2021; (10()):59 doi:10.12703/r/10-59.

Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.

Spagnoli C, Fusco C, Pisani F

Genes 2021; (12(8)) doi:10.3390/genes12081157.

MECP2-Related Disorders in Males.

Pascual-Alonso A, Martínez-Monseny AF, Xiol C, Armstrong J

International journal of molecular sciences 2021; (22(17)) doi:10.3390/ijms22179610.

Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions.

Bach S, Shovlin S, Moriarty M, et al.

Frontiers in cellular neuroscience 2021; (15()):764761 doi:10.3389/fncel.2021.764761.

Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome.

Neul JL, Percy AK, Benke TA, et al.

Contemporary clinical trials 2022; (114()):106704 doi:10.1016/j.cct.2022.106704.

Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review.

Tascini G, Dell'Isola GB, Mencaroni E, et al.

Frontiers in neurology 2022; (13()):817195 doi:10.3389/fneur.2022.817195.

Efficacy and safety of cannabidivarin treatment of epilepsy in girls with Rett syndrome: A phase 1 clinical trial.

Hurley EN, Ellaway CJ, Johnson AM, et al.

Epilepsia 2022; (63(7)):1736-1747 doi:10.1111/epi.17247.

Impact of a 12-month multifaceted neurological physiotherapy intervention on gross motor function in women with Rett syndrome.

Kapel A, Kovacic T, Kos N, Velnar T

Journal of integrative neuroscience 2022; (21(2)):59 doi:10.31083/j.jin2102059.

Identification of a New Variant of PUF60 Gene: Case Presentation and Literature Review.

Toader DO, Ursu R, Bacalbasa N, et al.

Cancer diagnosis & prognosis 2021; (1(3)):213-219 doi:10.21873/cdp.10029.

Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand).

Saldaris J, Leonard H, Jacoby P, et al.

Journal of child neurology 2022; (37(6)):541-547 doi:10.1177/08830738221091044.

Paradoxical Hyperexcitability in Disorders of Neurodevelopment.

Antoine MW

Frontiers in molecular neuroscience 2022; (15()):826679 doi:10.3389/fnmol.2022.826679.

Delayed Ventricular Repolarization and Sodium Channel Current Modification in a Mouse Model of Rett Syndrome.

Cheng H, Charles I, James AF, et al.

International journal of molecular sciences 2022; (23(10)) doi:10.3390/ijms23105735.

Advances in the pathogenesis of Rett syndrome using cell models.

Lu S, Chen Y, Wang Z

Animal models and experimental medicine 2022; (5(6)):532-541 doi:10.1002/ame2.12236.

Gene Editing and Rett Syndrome: Does It Make the Cut?

Coorey B, Haase F, Ellaway C, et al.

The CRISPR journal 2022; (5(4)):490-499 doi:10.1089/crispr.2022.0020.

Scoliosis in RETT Syndrome: A National Referral Centre Experience.

Menachem S, Hershkovich O, Ackshota N, et al.

Clinical spine surgery 2023; (36(2)):E75-E79 doi:10.1097/BSD.0000000000001381.

Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage.

Collins BE, Neul JL

Neuropsychiatric disease and treatment 2022; (18()):2813-2835 doi:10.2147/NDT.S371483.

Reduced Volumetric Bone Mineral Density of the Spine in Adolescent Rett Girls with Scoliosis.

Tsaknakis K, Kreuzer JH, Metzger FL, et al.

Children (Basel, Switzerland) 2022; (9(12)) doi:10.3390/children9121902.

Interprofessional Collaboration Improves Quality of Life of a Young Adult With Rett Syndrome.

Bullock JL, Gradick K, Proctor C, et al.

Cureus 2023; (15(3)):e36921 doi:10.7759/cureus.36921.

Trofinetide: First Approval.

Keam SJ

Drugs 2023; (83(9)):819-824 doi:10.1007/s40265-023-01883-8.

Evaluation Tools Developed for Rett Syndrome.

Lotan M, Downs J, Stahlhut M, Romano A

Diagnostics (Basel, Switzerland) 2023; (13(10)) doi:10.3390/diagnostics13101708.

Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study.

Neul JL, Percy AK, Benke TA, et al.

Nature medicine 2023; (29(6)):1468-1475 doi:10.1038/s41591-023-02398-1.

Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.

Gonzalez JN, Goldman S, Carter MT, Bain JM

Genes 2023; (14(6)) doi:10.3390/genes14061154.

Rett Syndrome: A Tale of Altered Genetics, Synaptic Plasticity, and Neurodevelopmental Dynamics.

Oluigbo DC

Cureus 2023; (15(7)):e41555 doi:10.7759/cureus.41555.

Trofinetide for Rett Syndrome: Highlights on the Development and Related Inventions of the First USFDA-Approved Treatment for Rare Pediatric Unmet Medical Need.

Hudu SA, Elmigdadi F, Qtaitat AA, et al.

Journal of clinical medicine 2023; (12(15)) doi:10.3390/jcm12155114.

Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.

Vilvarajan S, McDonald M, Douglas L, et al.

Genes 2023; (14(8)) doi:10.3390/genes14081607.

Teaching Requesting to Individuals with Rett Syndrome Using Alternative Augmentative Communication (AAC) Through Caregiver Coaching via Telehealth.

Kolb RL, McComas JJ, Girtler SN, et al.

Journal of developmental and physical disabilities 2023; (35(6)):1063-1090 doi:10.1007/s10882-023-09894-9.

Rett and Rett-related disorders: Common mechanisms for shared symptoms?

D'Mello SR

Experimental biology and medicine (Maywood, N.J.) 2023; (248(22)):2095-2108 doi:10.1177/15353702231209419.

The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome.

Sadhu C, Lyons C, Oh J, et al.

Genes 2023; (15(1)) doi:10.3390/genes15010031.

Development of trofinetide for the treatment of Rett syndrome: from bench to bedside.

Kennedy M, Glass L, Glaze DG, et al.

Frontiers in pharmacology 2023; (14()):1341746 doi:10.3389/fphar.2023.1341746.

Managing Gastrointestinal Symptoms Resulting from Treatment with Trofinetide for Rett Syndrome: Caregiver and Nurse Perspectives.

Moore R, Poulsen J, Reardon L, et al.

Advances in therapy 2024; (41(4)):1305-1317 doi:10.1007/s12325-024-02782-4.

Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials.

Lopes AG, Loganathan SK, Caliaperumal J

Brain sciences 2024; (14(2)) doi:10.3390/brainsci14020120.

Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome.

Merritt JK, Fang X, Caylor RC, et al.

Genes 2024; (15(5)) doi:10.3390/genes15050594.

Recommendations for the management of gastrointestinal comorbidities with or without trofinetide use in Rett syndrome.

Motil KJ, Beisang A, Smith-Hicks C, et al.

Expert review of gastroenterology & hepatology 2024; (18(6)):227-237 doi:10.1080/17474124.2024.2368014.

Trofinetide for the treatment of Rett syndrome: Results from the open-label extension LILAC study.

Percy AK, Neul JL, Benke TA, et al.

Med (New York, N.Y.) 2024; (5(9)):1178-1189.e3 doi:10.1016/j.medj.2024.05.018.

Trofinetide for the treatment of Rett syndrome: Long-term safety and efficacy results of the 32-month, open-label LILAC-2 study.

Percy AK, Neul JL, Benke TA, et al.

Med (New York, N.Y.) 2024; (5(10)):1275-1281.e2 doi:10.1016/j.medj.2024.06.007.

Rett Syndrome: The Emerging Landscape of Treatment Strategies.

Percy AK, Ananth A, Neul JL

CNS drugs 2024; (38(11)):851-867 doi:10.1007/s40263-024-01106-y.

[Rett syndrome: from pathophysiology to developments in treatment].

Cabal-Herrera AM, Beatty CW

Medicina 2024; (84 Suppl 3()):45-49.

LEDGF interacts with the NID domain of MeCP2 and modulates MeCP2 condensates.

Lesire S, Lata R, Hoogvliets Y, et al.

Structure (London, England : 1993) 2025; (33(1)):78-90.e6 doi:10.1016/j.str.2024.10.016.

Rett syndrome.

Gold WA, Percy AK, Neul JL, et al.

Nature reviews. Disease primers 2024; (10(1)):84 doi:10.1038/s41572-024-00568-0.

Profile of Trofinetide in the Treatment of Rett Syndrome: Design, Development and Potential Place in Therapy.

Camillo L, Pozzi M, Bernardo P, et al.

Drug design, development and therapy 2024; (18()):5023-5040 doi:10.2147/DDDT.S383133.

Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2-4 years with Rett syndrome.

Percy AK, Ryther R, Marsh ED, et al.

Med (New York, N.Y.) 2025; (6(6)):100608 doi:10.1016/j.medj.2025.100608.

A Blueprint for Translational Precision Medicine in Autism Spectrum Disorder and Related Neurogenetic Syndromes.

Thom RP, Warren TL, Khan S, et al.

Journal of child and adolescent psychopharmacology 2025; (35(4)):178-193 doi:10.1089/cap.2025.0023.

Self-regulating gene therapy ameliorates phenotypes and overcomes gene dosage sensitivity in a mouse model of Rett syndrome.

Ross PD, Gadalla KKE, Thomson SR, et al.

Science translational medicine 2025; (17(792)):eadq3614 doi:10.1126/scitranslmed.adq3614.

Interpreting the rich dialogue between astrocytes and neurons: An overview in Rett syndrome.

Postogna FM, Roggero OM, Biella F, Frasca A

Brain research bulletin 2025; (227()):111386 doi:10.1016/j.brainresbull.2025.111386.

MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping.

Mietto M, Montanari S, Falzarano MS, et al.

Biomolecules 2025; (15(5)) doi:10.3390/biom15050687.

Bilingualism in the preserved speech variant of Rett syndrome: A longitudinal case study.

Day RH, Cooper S, Sanoudaki E

Clinical linguistics & phonetics 2026; (40(3)):207-226 doi:10.1080/02699206.2025.2508260.

Clinical and functional outcomes in pediatric patients with Rett syndrome: a 15-year retrospective study.

Ferreira MC, De Beir J, Barreto MI, et al.

European journal of pediatrics 2025; (184(7)):465 doi:10.1007/s00431-025-06291-6.

Communication Abilities, Assessment Procedures, and Intervention Approaches in Rett Syndrome: A Narrative Review.

Voniati L, Papadopoulos A, Ziavra N, Tafiadis D

Brain sciences 2025; (15(7)) doi:10.3390/brainsci15070753.

Sleep Disorders in Children with Rett Syndrome.

Harner C, Gaffey TA, Sullivan SS, et al.

Children (Basel, Switzerland) 2025; (12(7)) doi:10.3390/children12070869.

Communication and feeding skills in Rett syndrome: Case report.

Voniati L, Georgiou R

Journal of intellectual & developmental disability 2025; 1-9 doi:10.3109/13668250.2025.2568297.

Epidemiology and Healthcare Resource Utilization of Rett Syndrome in Canada: The Ontario Experience.

Bond S, Murray J, Datta AN, et al.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2025; 1-7 doi:10.1017/cjn.2025.10475.

A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion.

Romano F, Shams Nosrati MS, Madia F, et al.

European journal of medical genetics 2026; (79()):105064 doi:10.1016/j.ejmg.2025.105064.

Rett syndrome: a review of clinical manifestations and therapeutic approaches.

Bricker K, Vaughn BV

Frontiers in sleep 2024; (3()):1373489 doi:10.3389/frsle.2024.1373489.

[Features of premorbid status in patients with Rett syndrome].

Fedoseeva IF, Goncharenko VA, Goncharenko AV, et al.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2026; (126(2)):136-143 doi:10.17116/jnevro2026126021136.