Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

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.

The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.

Cellini E, Vignoli A, Pisano T, et al.

Developmental medicine and child neurology 2016; (58(1)):93-7 doi:10.1111/dmcn.12894.

Validating the Rett Syndrome Gross Motor Scale.

Downs J, Stahlhut M, Wong K, et al.

PloS one 2016; (11(1)):e0147555 doi:10.1371/journal.pone.0147555.

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

Rocha H, Sampaio M, Rocha R, et al.

European journal of medical genetics 2016; (59(9)):478-82.

MECP2, a multi-talented modulator of chromatin architecture.

Della Ragione F, Vacca M, Fioriniello S, et al.

Briefings in functional genomics 2016; (15(6)):420-431 doi:10.1093/bfgp/elw023.

Clinical and biological progress over 50 years in Rett syndrome.

Leonard H, Cobb S, Downs J

Nature reviews. Neurology 2017; (13(1)):37-51 doi:10.1038/nrneurol.2016.186.

Perceived Benefits and Factors that Influence the Ability to Establish and Maintain Patient Support Groups in Rare Diseases: A Scoping Review.

Delisle VC, Gumuchian ST, Rice DB, et al.

The patient 2017; (10(3)):283-293 doi:10.1007/s40271-016-0213-9.

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.

RettBASE: Rett syndrome database update.

Krishnaraj R, Ho G, Christodoulou J

Human mutation 2017; (38(8)):922-931 doi:10.1002/humu.23263.

Current developments in the genetics of Rett and Rett-like syndrome.

Ehrhart F, Sangani NB, Curfs LMG

Current opinion in psychiatry 2018; (31(2)):103-108 doi:10.1097/YCO.0000000000000389.

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 as an Activator of Gene Expression.

Horvath PM, Monteggia LM

Trends in neurosciences 2018; (41(2)):72-74 doi:10.1016/j.tins.2017.11.005.

Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes.

Devinsky O, Verducci C, Thiele EA, et al.

Epilepsy & behavior : E&B 2018; (86()):131-137 doi:10.1016/j.yebeh.2018.05.013.

Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder.

Lim Z, Wong K, Downs J, et al.

Epilepsy research 2018; (146()):36-40 doi:10.1016/j.eplepsyres.2018.07.013.

Chemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics.

Baltussen LL, Negraes PD, Silvestre M, et al.

The EMBO journal 2018; (37(24)) doi:10.15252/embj.201899763.

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.

MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review.

Borlot F, Whitney R, Cohn RD, Weiss SK

Seizure 2019; (67()):86-90 doi:10.1016/j.seizure.2019.03.015.

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.

A New Scale to Evaluate Motor Function in Rett Syndrome: Validation and Psychometric Properties.

Rodocanachi Roidi ML, Isaias IU, Cozzi F, et al.

Pediatric neurology 2019; (100()):80-86 doi:10.1016/j.pediatrneurol.2019.03.005.

Phenotypic manifestations between male and female children with CDKL5 mutations.

Liang JS, Huang H, Wang JS, Lu JF

Brain & development 2019; (41(9)):783-789 doi:10.1016/j.braindev.2019.05.003.

Cognition and Evolution of Movement Disorders of FOXG1-Related Syndrome.

Wong LC, Wu YT, Hsu CJ, et al.

Frontiers in neurology 2019; (10()):641 doi:10.3389/fneur.2019.00641.

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome.

Caffarelli C, Gonnelli S, Pitinca MDT, et al.

BMC medical genetics 2020; (21(1)):21 doi:10.1186/s12881-020-0960-2.

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.

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.

Cutri-French C, Armstrong D, Saby J, et al.

Annals of neurology 2020; (88(2)):396-406 doi:10.1002/ana.25797.

AAV-mediated FOXG1 gene editing in human Rett primary cells.

Croci S, Carriero ML, Capitani K, et al.

European journal of human genetics : EJHG 2020; (28(10)):1446-1458 doi:10.1038/s41431-020-0652-6.

Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review.

Fonzo M, Sirico F, Corrado B

Brain sciences 2020; (10(7)) doi:10.3390/brainsci10070410.

Collaboration between patient organisations and a clinical research sponsor in a rare disease condition: learnings from a community advisory board and best practice for future collaborations.

Roennow A, Sauvé M, Welling J, et al.

BMJ open 2020; (10(12)):e039473 doi:10.1136/bmjopen-2020-039473.

Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease.

Pejhan S, Rastegar M

Biomolecules 2021; (11(1)) doi:10.3390/biom11010075.

Family Resilience and Its Association with Psychosocial Adjustment of Children with Chronic Illness: A Latent Profile Analysis.

Dong C, Wu Q, Pan Y, et al.

Journal of pediatric nursing 2021; (60()):e6-e12 doi:10.1016/j.pedn.2021.02.010.

Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort.

Aledo-Serrano Á, Gómez-Iglesias P, Toledano R, et al.

Epilepsy & behavior : E&B 2021; (118()):107946 doi:10.1016/j.yebeh.2021.107946.

Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.

Kluckova D, Kolnikova M, Medova V, et al.

Epilepsy research 2021; (176()):106699 doi:10.1016/j.eplepsyres.2021.106699.

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.

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.

Olson HE, Daniels CI, Haviland I, et al.

Journal of neurodevelopmental disorders 2021; (13(1)):40 doi:10.1186/s11689-021-09384-z.

Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly.

Jang HN, Kim T, Jung AY, et al.

Medicine 2021; (100(47)):e27949 doi:10.1097/MD.0000000000027949.

Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome.

Motil KJ, Geerts S, Annese F, et al.

The Journal of pediatrics 2022; (244()):169-177.e3 doi:10.1016/j.jpeds.2022.01.009.

MECP2 Mutations in the Rett Syndrome Patients from South India.

Anitha A, Poovathinal SA, Viswambharan V, et al.

Neurology India 2022; (70(1)):249-253 doi:10.4103/0028-3886.338714.

Analysis of X-inactivation status in a Rett syndrome natural history study cohort.

Fang X, Butler KM, Abidi F, et al.

Molecular genetics & genomic medicine 2022; (10(5)):e1917 doi:10.1002/mgg3.1917.

Multi-disciplinary rehabilitation for management of diabetes mellitus related neurological and musculoskeletal complications.

Ullah S, Hunain Al Arabia D, Rathore FA

JPMA. The Journal of the Pakistan Medical Association 2022; (72(2)):380-382 doi:10.47391/JPMA.22-41.

Ganaxolone: First Approval.

Lamb YN

Drugs 2022; (82(8)):933-940 doi:10.1007/s40265-022-01724-0.

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.

Amin S, Monaghan M, Aledo-Serrano A, et al.

Frontiers in neurology 2022; (13()):874695 doi:10.3389/fneur.2022.874695.

Efficacy of melatonin for chronic insomnia: Systematic reviews and meta-analyses.

Choi K, Lee YJ, Park S, et al.

Sleep medicine reviews 2022; (66()):101692 doi:10.1016/j.smrv.2022.101692.

CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism.

Takahashi S, Takeguchi R, Tanaka R, et al.

Journal of the neurological sciences 2022; (443()):120498 doi:10.1016/j.jns.2022.120498.

The clinical and sleep manifestations in children with FOXG1 syndrome.

Wong LC, Huang CH, Chou WY, et al.

Autism research : official journal of the International Society for Autism Research 2023; (16(5)):953-966 doi:10.1002/aur.2916.

Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure.

Oberman LM, Leonard H, Downs J, et al.

American journal on intellectual and developmental disabilities 2023; (128(3)):237-253 doi:10.1352/1944-7558-128.3.237.

Trofinetide: First Approval.

Keam SJ

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

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.

Scoliosis in children with severe cerebral palsy: a population-based study of 206 children at GMFCS levels III-V.

Vinje S, Terjesen T, Kibsgård T

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society 2023; (32(11)):4030-4036 doi:10.1007/s00586-023-07868-1.

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.

CDKL5-mediated developmental tuning of neuronal excitability and concomitant regulation of transcriptome.

Liao W, Lee KZ

Human molecular genetics 2023; (32(23)):3276-3298 doi:10.1093/hmg/ddad149.

Implementing a Multidisciplinary Post-COVID Clinic in a Small Community Environment.

Price E, Hollis N, Salganik J, et al.

Archives of rehabilitation research and clinical translation 2023; (5(3)):100270 doi:10.1016/j.arrct.2023.100270.

The 2023 Canadian Cardiovascular Society Clinical Practice Update on Management of the Patient With a Prolonged QT Interval.

Davies RA, Ladouceur VB, Green MS, et al.

The Canadian journal of cardiology 2023; (39(10)):1285-1301 doi:10.1016/j.cjca.2023.06.011.

Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up.

Olson HE, Amin S, Bahi-Buisson N, et al.

Epilepsia 2024; (65(1)):37-45 doi:10.1111/epi.17826.

Utilization and Perception of Peer-Support After Lower Limb Loss in the United States: Potential Benefits on Mobility Outcomes.

Lee SP, Maluotoga M, Thind R, et al.

Archives of physical medicine and rehabilitation 2024; (105(5)):939-946.e3 doi:10.1016/j.apmr.2023.12.009.

Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS).

Raspa M, Gwaltney A, Bann C, et al.

Journal of autism and developmental disorders 2025; (55(3)):997-1009 doi:10.1007/s10803-024-06238-0.

How Reliable Is the Measurement of the Lateral Center Edge Angle on Scoliosis Radiographs for Detecting Acetabular Dysplasia?

Taylor TN, Duruewuru AT, Ditzler MG, et al.

Journal of pediatric orthopedics 2024; (44(6)):e485-e489 doi:10.1097/BPO.0000000000002670.

Gut microbiota profile in CDKL5 deficiency disorder patients.

Borghi E, Xynomilakis O, Ottaviano E, et al.

Scientific reports 2024; (14(1)):7376 doi:10.1038/s41598-024-56989-0.

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.

Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up.

Berger TD, Fogel Berger C, Gara S, et al.

European journal of pediatrics 2024; (183(9)):4085-4091 doi:10.1007/s00431-024-05668-3.

Modification of a parent-report sleep scale for individuals with CDKL5 deficiency disorder: a psychometric study.

Saldaris JM, Demarest S, Jacoby P, et al.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2024; (20(12)):1887-1893 doi:10.5664/jcsm.11244.

Novel CDKL5 targets identified in human iPSC-derived neurons.

Massey S, Ang CS, Davidson NM, et al.

Cellular and molecular life sciences : CMLS 2024; (81(1)):347 doi:10.1007/s00018-024-05389-8.

Early differential impact of MeCP2 mutations on functional networks in Rett syndrome patient-derived human cerebral organoids.

Osaki T, Delepine C, Osako Y, et al.

bioRxiv : the preprint server for biology 2024; doi:10.1101/2024.08.10.607464.

Gastrointestinal manifestations of Rett syndrome: An updated analysis using the Gastrointestinal Health Questionnaire.

Ihekweazu FD, Motil KJ

Journal of pediatric gastroenterology and nutrition 2025; (80(1)):46-56 doi:10.1002/jpn3.12394.

An overview of genetic mutations in Aicardi-Goutières syndrome in Iranian population.

Khalilian S, Fathi M, Miryounesi M, Ghafouri-Fard S

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(2)):999-1007 doi:10.1007/s10072-024-07824-x.

Sleep disorders in children: classification, evaluation, and management. A review.

Gemke RJBJ, Burger P, Steur LMH

European journal of pediatrics 2024; (184(1)):39 doi:10.1007/s00431-024-05822-x.

Ganaxolone: A Review in Epileptic Seizures Associated with Cyclin-Dependent Kinase-Like 5 Deficiency Disorder.

Hoy SM

Paediatric drugs 2025; (27(1)):111-118 doi:10.1007/s40272-024-00670-6.

Assessing Experiences With Trofinetide for Rett Syndrome: Interviews With Caregivers of Participants in Clinical Trials.

Barrett AM, Olayinka-Amao O, Martin S, et al.

Clinical therapeutics 2025; (47(3)):181-188 doi:10.1016/j.clinthera.2024.12.012.

The natural history of CDKL5 deficiency disorder into adulthood.

Aledo-Serrano A, Lewis-Smith D, Leonard H, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.01.12.24318239.

Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: Novel cases of familial chylomicronemia syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.

Ariza MJ, Coca-Prieto I, Rioja J, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(5)):101365 doi:10.1016/j.gim.2025.101365.

Bone health and bisphosphonate treatment in females with Rett syndrome in a national center.

Levy-Shraga Y, Goldmann S, Gruber N, et al.

Pediatric research 2025; (98(5)):1870-1875 doi:10.1038/s41390-025-04001-4.

The Ketogenic Diet: An Underrecognized Therapy for Rett Syndrome.

Haridas B, Bessone S, Turner Z, Kossoff E

Journal of child neurology 2025; (40(7)):530-534 doi:10.1177/08830738251329139.

Revealing the complex role of CDKL5 in developmental epilepsy through a calcium channel related vision.

Yan M, Guo X, Xu C

Acta epileptologica 2024; (6(1)):15 doi:10.1186/s42494-024-00162-7.

Novel WAC gene variant identified in the first documented case of DeSanto-Shinawi Syndrome in India.

Dwivedi A, Chauhan L, Kumar P, et al.

Molecular and cellular pediatrics 2025; (12(1)):7 doi:10.1186/s40348-025-00193-1.

Sleep Problems and Clinical Severity in Rett Syndrome.

Peters SU, Fu C, Shelton AR, et al.

Journal of child neurology 2026; (41(2)):163-171 doi:10.1177/08830738251347561.

Growth, Feeding and Nutrition in Rett Syndrome: Retrospective Audit of Twenty Years' Experience From an Australian Multidisciplinary Management Clinic.

Thompson S, Bird T, Tzannes G, Ellaway C

Journal of paediatrics and child health 2025; doi:10.1111/jpc.70123.

Neurodevelopmental disorder: Hao-Fountain syndrome with USP7 mutation-a case report.

Rafeienejad F, Keyhani E, Akbarfahimi N, Nouri N

Journal of medical case reports 2025; (19(1)):363 doi:10.1186/s13256-025-05403-y.

Antiseizure medications in CDKL5 encephalopathy- systematic review.

Kalinowska-Doman A, Strzelczyk A, Paprocka J

Seizure 2025; (131()):391-396 doi:10.1016/j.seizure.2025.08.002.

Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study.

Keeley J, Skoda Z, Utley K, et al.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2025; (34(12)):3609-3620 doi:10.1007/s11136-025-04048-0.

Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndrome.

Brimble E, Ventola P, Blomenberg E, et al.

Journal of neurodevelopmental disorders 2025; (17(1)):64 doi:10.1186/s11689-025-09653-1.

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome.

Simon AJ, Picard N, d'Andrea V, et al.

Annals of clinical and translational neurology 2026; (13(4)):700-713 doi:10.1002/acn3.70197.

Living With Rett Syndrome: From Discovery to Clinical Advancements and Emerging Therapies.

Taluri S, Percy AK, Ananth AL

Pediatric neurology 2026; (175()):67-71 doi:10.1016/j.pediatrneurol.2025.10.021.

AAV-mediated neuronal expression of FOXG1 restores oligodendrocyte maturation, myelination, and hippocampal structure in mouse models of FOXG1 syndrome.

Park J, O'Shea H, Jeon S, et al.

bioRxiv : the preprint server for biology 2025; doi:10.64898/2025.12.04.692422.

A Rare Nonsense Mutation in the ABCB4 Gene Associated with Progressive Familial Intrahepatic Cholestasis Type 3: A Case Report.

Cai B, Lv D, Luo X, Zhou L

Journal of clinical medicine 2026; (15(2)) doi:10.3390/jcm15020412.

Developmental and Epileptic Encephalopathy due to Cyclin-Dependent Kinase-Like 5 Deficiency: A Single-Center Experience Across Sex Differences.

Fasaludeen A, Menon RN, Jose M, et al.

Pediatric neurology 2026; (177()):4-18 doi:10.1016/j.pediatrneurol.2026.01.001.

Disease-modifying therapies for Rett syndrome: a review for neurologists.

Samanta D

Frontiers in neurology 2026; (17()):1766679 doi:10.3389/fneur.2026.1766679.

A cross-correction gene therapy approach for CDKL5 deficiency disorder improves the pathological phenotype of CDD patient-derived cortical organoids.

Medici G, Bove AM, Trazzi S, et al.

Frontiers in bioengineering and biotechnology 2025; (13()):1744903 doi:10.3389/fbioe.2025.1744903.

CDKL5 modulates the plasticity of excitatory synapses via liquid-liquid phase separation.

Li M, Zhu Z, Li D, et al.

Proceedings of the National Academy of Sciences of the United States of America 2026; (123(8)):e2511123123 doi:10.1073/pnas.2511123123.

Nedaplatin induced QT prolongation with polymorphic ventricular tachyarrhythmia: clinical experience and review of literature.

Li J, Ye S, Chen J, et al.

Cardio-oncology (London, England) 2026; (12(1)).