%D9%85%D8%AA%D9%84%D8%A7%D8%B2%D9%85%D8%A9_%D8%B1%D9%8A%D8%AAS%C3%ADndrome_de_RettCategory:Rett_syndromeRett%C5%AFv_syndromSyndrom_RettRetts_syndromRett-Syndrom%CE%A3%CF%8D%CE%BD%CE%B4%CF%81%CE%BF%CE%BC%CE%BF_%CE%A1%CE%B5%CF%84Rett_syndromeS%C3%ADndrome_de_RettRetti_s%C3%BCndroom%D8%B3%D9%86%D8%AF%D8%B1%D9%85_%D8%B1%D8%AARettin_oireyhtym%C3%A4Syndrome_de_Rett%D7%AA%D7%A1%D7%9E%D7%95%D7%A0%D7%AA_%D7%A8%D7%98Rettov_sindrom%D5%8C%D5%A5%D5%BF%D5%BF%D5%AB_%D5%B0%D5%A1%D5%B4%D5%A1%D5%AD%D5%BF%D5%A1%D5%B6%D5%AB%D5%B7Sindrom_RettSindrome_di_Rett%E3%83%AC%E3%83%83%E3%83%88%E7%97%87%E5%80%99%E7%BE%A4%E1%83%A0%E1%83%94%E1%83%A2%E1%83%98%E1%83%A1_%E1%83%A1%E1%83%98%E1%83%9C%E1%83%93%E1%83%A0%E1%83%9D%E1%83%9B%E1%83%98%EB%A0%88%ED%8A%B8_%EC%A6%9D%ED%9B%84%EA%B5%B0Reta_sindromsSyndroom_van_RettRetts_syndrom%E0%AC%B0%E0%AD%87%E0%AC%9F_%E0%AC%B8%E0%AC%BF%E0%AC%A3%E0%AD%8D%E0%AC%A1%E0%AD%8D%E0%AC%B0%E0%AD%8B%E0%AC%AEZesp%C3%B3%C5%82_RettaS%C3%ADndrome_de_Rett%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC_%D0%A0%D0%B5%D1%82%D1%82%D0%B0Rettov_sindromRett_syndrome%D0%A0%D0%B5%D1%82%D0%BE%D0%B2_%D1%81%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BCRetts_syndrom%E0%AE%87%E0%AE%B0%E0%AF%86%E0%AE%9F%E0%AF%8D_%E0%AE%A8%E0%AF%8B%E0%AE%AF%E0%AF%8D%E0%AE%A4%E0%AF%8D%E0%AE%A4%E0%AF%8A%E0%AE%95%E0%AF%88%E0%B8%81%E0%B8%A5%E0%B8%B8%E0%B9%88%E0%B8%A1%E0%B8%AD%E0%B8%B2%E0%B8%81%E0%B8%B2%E0%B8%A3%E0%B9%80%E0%B8%A3%E0%B8%95%E0%B8%95%E0%B9%8CRett_sendromu%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC_%D0%A0%D0%B5%D1%82%D1%82%D0%B0H%E1%BB%99i_ch%E1%BB%A9ng_RettQ917357%E8%95%BE%E7%89%B9%E6%B0%8F%E7%97%87
about
MECP2 and Associated Rett SyndromeRett syndrome causing genesThe Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett SyndromeAngelman & Rett Syndrome: Interaction and CommunicationPlacebo Controlled Trial of Dextromethorphan in Rett SyndromeA Study to Evaluate Ketamine for the Treatment of Rett SyndromeStudy of the Pathogenesis of Rett SyndromePredictors of Caregiver Adaptation to Pervasive Developmental DisordersStudy of ANAVEX2-73 in Patients With Rett SyndromeZX008 Expanded Access ProtocolA Study to Investigate the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Children and Adults With Epileptic Encephalopathy Including Dravet Syndrome and Lennox-Gastaut SyndromeTreatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)Effects of Creatine Supplementation in Rett SyndromeVerapamil as Therapy for Children and Young Adults With Dravet SyndromeNatural History of Rett Syndrome & Related DisordersBiobanking of Rett Syndrome and Related DisordersDevelopment of a Behavioral Outcome Measure for Rett Syndrome (RettBe)A Study to Assess the Safety and Tolerability of ZX008 in Children and Young Adults With DS or LGS Currently Taking CBDRare Diseases Clinical Research Network: Neurophysiological CorrelatesAntiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1)A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet Syndrome (GWPCARE1)Study to Assess Safety and Efficacy of Fingolimod in Children With Rett SyndromeAn Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett SyndromeTreatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet SyndromeEffects of Standing on Non-Ambulatory Children With Neuromuscular ConditionsGWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet SyndromeExpanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic EncephalopathiesSafety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet SyndromeStiripentol in Dravet SyndromeCreatine Metabolism in Rett SyndromeMetabolic Evaluation of Nutrition in Rett SyndromeTrial of Dextromethorphan in Rett SyndromeA Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet SyndromeTreatment of Gait Disorders in Children With Dravet SyndromeEfficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome'Uptime' Participation Intervention in Girls and Women With Rett SyndromeStudy of Cardiac and Paroxysmal Abnormalities in Rett SyndromeThe Role of Probiotics PS128 in Movement DisordersAnalysis of the Glutathione Cycle in Children With Rett SyndromeClobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome
P1050
P138
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeReduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndromeMECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal originExpression of MeCP2 in postmitotic neurons rescues Rett syndrome in miceRett syndrome: revised diagnostic criteria and nomenclatureCase report: Retracing atypical development: a preserved speech variant of Rett syndromePathophysiology of locus ceruleus neurons in a mouse model of Rett syndromeRett syndrome and MeCP2: linking epigenetics and neuronal functionPathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndromeNTNG1 mutations are a rare cause of Rett syndromeFOXG1 is responsible for the congenital variant of Rett syndromeThe common BDNF polymorphism may be a modifier of disease severity in Rett syndromePartial reversal of Rett Syndrome-like symptoms in MeCP2 mutant miceReciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autismRett syndrome: clinical review and genetic updateCardiac disease and Rett syndromeRett syndrome and the MECP2 geneInhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndromeNormal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteinsGene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutationsRecent advances in understanding synaptic abnormalities in Rett syndromeDevelopmental Dynamics of Rett SyndromeRett Syndrome: Crossing the Threshold to Clinical TranslationThe Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett SyndromeInvestigation of Rett syndrome using pluripotent stem cellsManagement of epilepsy in patients with Rett syndrome: perspectives and considerationsBDNF deregulation in Rett syndromeTargeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromesIllness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1).Vascular dysfunction in a mouse model of Rett syndrome and effects of curcumin treatmentSynaptic maturation at cortical projections to the lateral amygdala in a mouse model of Rett syndromeRett Syndrome: Reaching for Clinical TrialsRett syndrome - biological pathways leading from MECP2 to disorder phenotypesA review of Rett syndrome (RTT) with induced pluripotent stem cellsMolecular basis of Rett syndrome: A current lookRett syndrome: disruption of epigenetic control of postnatal neurological functionsCandidate gene analysis in Rett syndrome and the identification of 21 SNPs in XqNeurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)Review article: breaking new ground with Rett syndrome
P921
Q29883414-BAADD68C-187C-48C9-87E6-BB70C3049718Q55445580-D13B6678-ED88-4E2A-962E-350F044247F1Q61865072-D61977DC-DE4C-4982-BAB6-5AA5C6284EC7Q62040011-464EA335-E4B3-4A4B-B265-0921DE1BE5A1Q63320428-32F89DCA-DD64-4198-B4DE-2B1E01C62AE4Q63394591-298FF7C8-6D41-4425-9EF4-801D353B78F9Q63404006-14DE453A-F8ED-4099-8DF3-8FA2AE74D3F6Q63591274-3B1B924B-E59B-4879-88DB-655B501195B1Q63592770-49407D09-ED5D-423C-B424-09AEEB21835AQ63594546-3C171DED-E8DC-4649-A277-15F711E0CA74Q63805129-748C8C26-1909-4AD4-B626-BF648BD7B6C1Q63818592-77355125-B32A-4488-95C9-CAE594E58291Q63830523-9A325C85-0F16-46BC-B84F-E36D14E91919Q63842751-A7CEEBA3-7F18-4B5F-844C-ED006B12F4F8Q64123066-64D574E0-9AC5-4253-9E92-637F746BFE26Q64123089-D6021BE9-CFFE-4A9C-90B1-35029A6FA882Q64173412-0DB08869-45C3-4F27-AFEA-A4BBAAE28443Q64187760-5977C999-7213-4DD3-A8CD-E90688B06DBDQ64188044-38012170-0329-4BFC-836D-97258E7C3963Q64220616-2FC6FD23-F0E8-4C32-B812-E20579AA347CQ64220630-34E27CEB-D52A-473A-913C-259E36A315D6Q64335458-4DFBB9E7-C4DB-4AEF-9717-29A445C766D6Q64350111-8932E75E-A447-471F-922D-E679D47E0A23Q64352253-CBC968A1-9FCD-4B9A-948A-5B67E10F2F44Q64394579-CF7D874A-A7F2-48FE-84E3-6F63002D3C0AQ64604057-5332B4B5-B5AB-42F8-81B3-9E3A4368C0CDQ64606964-A2E126F1-09B0-46B7-9369-F443DC06027DQ64607870-64231E55-9E66-4B87-BF8B-7F71329307EFQ64637431-5A83B03D-C6E6-4AB5-89E5-CD245402A49BQ64651546-3E7CD212-F507-45C5-AA0A-D73427DC277CQ64710302-AE0BC92E-A719-479D-8F67-5CCDCED9373FQ64724818-8F5E6274-A160-4166-8536-5E28F276DA92Q64790612-25BE0E11-74D7-49AA-96C6-C1893EE0D7A9Q64792885-066DFB67-0F56-4EE3-B8DC-2EDC06A1A9F9Q64793907-6964A841-89AD-4602-A676-969B39257783Q64793965-9B68A486-A2D3-4C9E-8929-BC7159B1C92BQ64806040-8710972D-829D-464A-90BE-494DB1851888Q64836872-FD6580CF-EB95-427E-98B7-EEF2D69C78E1Q65348746-7079022C-DA58-4871-82B0-1FACF95BAAD9Q65353814-0EF6CEB9-D072-4388-AF36-7A9C88684307
P1050
description
Genetic brain disorder
@en
Neurologische ziekte
@nl
arvelig utviklingsforstyrrelse i hjernen
@nb
genetycznie uwarunkowane zaburzenie neurologiczne
@pl
malattia rara
@it
neurologische Erkrankung
@de
مرض يصيب الإنسان
@ar
name
Hội chứng Rett
@vi
Reta sindroms
@lv
Retov sindrom
@sr-el
Rett sendromu
@tr
Rett syndrom
@da
Rett syndrome
@en
Rett-Syndrom
@de
Retti sündroom
@et
Rettin oireyhtymä
@fi
Rettov sindrom
@hr
type
label
Hội chứng Rett
@vi
Reta sindroms
@lv
Retov sindrom
@sr-el
Rett sendromu
@tr
Rett syndrom
@da
Rett syndrome
@en
Rett-Syndrom
@de
Retti sündroom
@et
Rettin oireyhtymä
@fi
Rettov sindrom
@hr
altLabel
Disturbo di Rett
@it
RS
@nb
Rett syndrom
@nb
Rett syndrom
@sv
Rett's disorder
@en
Rett's syndrome
@en
Rett-oireyhtymä
@fi
Rett-syndrooma
@fi
Rettin syndrooma
@fi
Rettov sindrom
@sr
prefLabel
Hội chứng Rett
@vi
Reta sindroms
@lv
Retov sindrom
@sr-el
Rett sendromu
@tr
Rett syndrom
@da
Rett syndrome
@en
Rett-Syndrom
@de
Retti sündroom
@et
Rettin oireyhtymä
@fi
Rettov sindrom
@hr