Details of Disease

General Information of Disease (ID: DISGG5UV)

• Disease Name: Rett syndrome
• Synonyms: RTT; Rts; Rett syndrome, atypical; Rett syndrome, Zappella variant; Rett syndrome, preserved speech variant; autism, dementia, ataxia, and loss of purposeful hand use; rett syndrome, preserved speech variant, X-linked dominant; Rett's disorder; Rett syndrome; rett syndrome, X-linked dominant; rett syndrome, atypical, X-linked dominant; cerebroatrophic hyperammonemia
• Disease Class: LD90: Intellectual development disorder
• Definition: A severe neurodevelopmental disorder affecting the central nervous system.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS51975: Pervasive developmental disorder
  DISYOKTG: Mendelian neurodevelopmental disorder
  DISGG5UV: Rett syndrome
• ICD Code:
  ICD-11: ICD-11: LD90.4
  ICD-10: ICD-10: F84.2
  Expand ICD-11: 'LD90.4
  Expand ICD-10: 'F84.2
• Disease Identifiers:
  MONDO ID: MONDO_0010726
  MESH ID: D015518
  UMLS CUI: C0035372
  OMIM ID: 312750
  MedGen ID: 48441
  Orphanet ID: 778
  SNOMED CT ID: 68618008

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Trofinetide	DMPZ97S	Approved	Small molecular drug	[1]

This Disease is Treated as An Indication in 6 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Sarizotan	DMH7IPW	Phase 2/3	Small molecular drug	[2]
Coenzyme Q10 analog	DMO0VGH	Phase 2	NA	[3]
ANAVEX 2-73	DM67OU4	Phase 1	NA	[2]
AVXS-201	DM8Z4U3	Phase 1	Gene therapy	[4]
BHV-5000	DMM2EZW	Phase 1	NA	[2]
NLX-101	DMPJMB7	Phase 1	Small molecular drug	[3]

This Disease is Treated as An Indication in 1 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Brain-derived neurotrophic factor peptidomimetics	DMNHYCV	Investigative	NA	[5]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 34 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ALDH5A1	TTJUWVB	Limited	Genetic Variation	[6]
C1QB	TT8A9DM	Limited	Altered Expression	[7]
CHAT	TTKYFSB	Limited	Altered Expression	[8]
DNM1	TTE3JW9	Limited	Biomarker	[9]
EDN2	TTMR0OP	Limited	Biomarker	[10]
EIF4E	TTZGCP6	Limited	Biomarker	[11]
FGF4	TTCEKVZ	Limited	Biomarker	[10]
GABRA3	TT37EDJ	Limited	Biomarker	[12]
GABRD	TTGXH6N	Limited	Genetic Variation	[13]
GPR55	TTNET8J	Limited	Altered Expression	[14]
GRIN1	TTLD29N	Limited	Genetic Variation	[15]
GRM7	TT0I76D	Limited	Altered Expression	[16]
ID2	TTW8A5N	Limited	Biomarker	[17]
KCNA2	TTVFB0O	Limited	Genetic Variation	[18]
KCNB1	TT5OEKU	Limited	Genetic Variation	[19]
PSEN2	TTWN3F4	Limited	Biomarker	[10]
SLC18A3	TTV8KWS	Limited	Biomarker	[20]
SLC25A4	TTU5A6Q	Limited	Biomarker	[21]
ST3GAL5	TTVF2BJ	Limited	Genetic Variation	[22]
TBL1XR1	TTYXT16	Limited	Genetic Variation	[23]
TMPRSS11D	TTWHYC8	Limited	Altered Expression	[24]
UBA1	TTXHWA7	Limited	Biomarker	[12]
EP300	TTGH73N	moderate	Genetic Variation	[25]
HTR7	TTO9X1H	moderate	Biomarker	[26]
CREBBP	TTFRCTK	Strong	Genetic Variation	[27]
GRIA2	TTWM461	Strong	Genetic Variation	[28]
JMJD1C	TTBISK4	Strong	Genetic Variation	[29]
PTPN1	TTELIN2	Strong	Biomarker	[30]
SLC12A5	TTH6UZY	Strong	Genetic Variation	[31]
TH	TTUHP71	Strong	Biomarker	[32]
UBE3A	TTUZX6V	Strong	Biomarker	[33]
CHRNA7	TTLA931	Definitive	Genetic Variation	[34]
MECP2	TTTAU9R	Definitive	X-linked	[35]
SCARB1	TTRE324	Definitive	Biomarker	[36]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC12A2	DTHKL3Q	Definitive	Genetic Variation	[31]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HAGH	DE05IKP	Limited	Altered Expression	[37]

This Disease Is Related to 61 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABR	OTZQK8JF	Limited	Biomarker	[38]
ADARB1	OTGKSZEV	Limited	Genetic Variation	[39]
ARSD	OTAHW9M8	Limited	Biomarker	[40]
C1QA	OT6XKVVA	Limited	Altered Expression	[7]
C1QC	OTLE5U1P	Limited	Altered Expression	[7]
CDR2	OTD3ZJST	Limited	Biomarker	[12]
DCTN3	OTQOSUES	Limited	Biomarker	[41]
DLX6	OT0FIJHY	Limited	Altered Expression	[42]
DYNC1H1	OTD1KRKO	Limited	Biomarker	[41]
EGR2	OTAVQ78J	Limited	Altered Expression	[43]
FBP1	OTQBANEP	Limited	Biomarker	[44]
FBP2	OT9R1LF7	Limited	Biomarker	[44]
FUBP1	OT77SC9N	Limited	Biomarker	[44]
GABBR1	OTU5A52J	Limited	Biomarker	[10]
GABRB3	OT80C3D4	Limited	Biomarker	[33]
GDI1	OTYM3928	Limited	Biomarker	[45]
GDI2	OTGLY3I7	Limited	Biomarker	[45]
GLRA2	OTDQ0KW7	Limited	Biomarker	[46]
GLRA3	OTC8C2NC	Limited	Biomarker	[47]
GLUD1	OTXKOCUH	Limited	Biomarker	[48]
GLUD2	OTF3GGYY	Limited	Altered Expression	[45]
GPM6B	OT8Q1582	Limited	Genetic Variation	[49]
GYPE	OTBHAG6A	Limited	Genetic Variation	[50]
HOOK1	OTTTKV7V	Limited	Biomarker	[51]
ID3	OTUULW5Z	Limited	Biomarker	[17]
IQSEC2	OTYFRM4Q	Limited	Genetic Variation	[19]
KIF1A	OT3JVEGV	Limited	Genetic Variation	[15]
MBD5	OTFHT4MO	Limited	Genetic Variation	[52]
MED19	OTT9RT5N	Limited	Biomarker	[53]
NCOR2	OTY917X0	Limited	Genetic Variation	[54]
NDN	OTYBYJ82	Limited	Biomarker	[55]
OPN1LW	OTFNUZ7O	Limited	Biomarker	[11]
PAG1	OTFOJUIQ	Limited	Biomarker	[11]
PCBP4	OTDLL4NB	Limited	Biomarker	[11]
PCDH7	OTP091X8	Limited	Biomarker	[56]
PCDHB1	OTFPKRA5	Limited	Altered Expression	[56]
PRPF40A	OT6EXJZN	Limited	Biomarker	[57]
PRPF6	OT3U0ABN	Limited	Biomarker	[21]
PTPN4	OT6SXU5Y	Limited	Biomarker	[58]
RAB14	OTF1J0TB	Limited	Biomarker	[44]
RREB1	OT62460U	Limited	Genetic Variation	[59]
SMC1A	OT9ZMRK9	Limited	Genetic Variation	[60]
SOX3	OT1CRCOB	Limited	Genetic Variation	[12]
SRI	OT4R3EAC	Limited	Biomarker	[61]
STX5	OTQ0024B	Limited	Biomarker	[10]
SYT6	OTE3F36L	Limited	Biomarker	[10]
ARX	OTBGYH25	Strong	Genetic Variation	[62]
CXXC1	OTO10D1N	Strong	Genetic Variation	[63]
DLX5	OTEEFBEU	Strong	Biomarker	[64]
FOXG1	OTAW57J4	Strong	Biomarker	[65]
FXYD1	OTNKT6GP	Strong	Biomarker	[66]
GABBR2	OT67RIFY	Strong	Biomarker	[67]
MED18	OT6M6CQ8	Strong	Biomarker	[29]
MEF2C	OTZGF1Y5	Strong	Genetic Variation	[19]
NTNG1	OTF48IID	Strong	Biomarker	[68]
NTNG2	OTTY88DL	Strong	Biomarker	[68]
SYN1	OTMNPWC1	Strong	Biomarker	[8]
CASK	OT8EF7ZF	Definitive	Genetic Variation	[25]
MBD1	OTD19VO6	Definitive	Biomarker	[69]
MECP2	OTREZK68	Definitive	X-linked	[35]
TET1	OTZDHT1D	Definitive	Biomarker	[70]

References

• [1] FDA Approved Drug Products from FDA Official Website. 2023. Application Number: 217026.
• [2] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [3] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [4] Clinical pipeline report, company report or official report of Novartis
• [5] The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
• [6] Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.Mol Genet Genomic Med. 2019 May;7(5):e629. doi: 10.1002/mgg3.629. Epub 2019 Mar 4.
• [7] Transcriptome analysis of human brain tissue identifies reduced expression of complement complex C1Q Genes in Rett syndrome.BMC Genomics. 2016 Jun 6;17:427. doi: 10.1186/s12864-016-2746-7.
• [8] Choline Ameliorates Disease Phenotypes in Human iPSC Models of Rett Syndrome.Neuromolecular Med. 2016 Sep;18(3):364-77. doi: 10.1007/s12017-016-8421-y. Epub 2016 Jul 5.
• [9] Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain.BMC Neurosci. 2010 Apr 26;11:53. doi: 10.1186/1471-2202-11-53.
• [10] Analysis of gene expression in Ca(2+)-dependent activator protein for secretion 2 (Cadps2) knockout cerebellum using GeneChip and KEGG pathways.Neurosci Lett. 2017 Feb 3;639:88-93. doi: 10.1016/j.neulet.2016.12.068. Epub 2016 Dec 29.
• [11] Mutation of the CH1 Domain in the Histone Acetyltransferase CREBBP Results in Autism-Relevant Behaviors in Mice.PLoS One. 2016 Jan 5;11(1):e0146366. doi: 10.1371/journal.pone.0146366. eCollection 2016.
• [12] Mutation screening in Rett syndrome patients.J Med Genet. 2000 Apr;37(4):250-5. doi: 10.1136/jmg.37.4.250.
• [13] Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.Clin Genet. 2015 Sep;88(3):288-92. doi: 10.1111/cge.12492. Epub 2014 Nov 13.
• [14] Chronic treatment with the phytocannabinoid Cannabidivarin (CBDV) rescues behavioural alterations and brain atrophy in a mouse model of Rett syndrome.Neuropharmacology. 2018 Sep 15;140:121-129. doi: 10.1016/j.neuropharm.2018.07.029. Epub 2018 Jul 27.
• [15] Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.Mol Genet Genomic Med. 2019 Nov;7(11):e968. doi: 10.1002/mgg3.968. Epub 2019 Sep 11.
• [16] Genetic Reduction or Negative Modulation of mGlu(7) Does Not Impact Anxiety and Fear Learning Phenotypes in a Mouse Model of MECP2 Duplication Syndrome.ACS Chem Neurosci. 2018 Sep 19;9(9):2210-2217. doi: 10.1021/acschemneuro.7b00414. Epub 2017 Dec 14.
• [17] Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome.Hum Mol Genet. 2006 Jun 15;15(12):2003-14. doi: 10.1093/hmg/ddl124. Epub 2006 May 8.
• [18] Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.Clin Genet. 2017 Mar;91(3):431-440. doi: 10.1111/cge.12784. Epub 2016 May 11.
• [19] Monogenic disorders that mimic the phenotype of Rett syndrome.Neurogenetics. 2018 Jan;19(1):41-47. doi: 10.1007/s10048-017-0535-3. Epub 2018 Jan 10.
• [20] Correlation of the vesicular acetylcholine transporter densities in the striata to the clinical abilities of women with Rett syndrome.Synapse. 2012 Jun;66(6):471-82. doi: 10.1002/syn.21515. Epub 2012 Feb 28.
• [21] The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.Hum Mol Genet. 2010 Aug 15;19(16):3114-23. doi: 10.1093/hmg/ddq214. Epub 2010 May 26.
• [22] GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.Am J Med Genet A. 2016 Aug;170(8):2200-5. doi: 10.1002/ajmg.a.37773. Epub 2016 May 27.
• [23] Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.Proc Natl Acad Sci U S A. 2017 Apr 18;114(16):E3243-E3250. doi: 10.1073/pnas.1700731114. Epub 2017 Mar 27.
• [24] Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.Hum Mol Genet. 2003 Feb 15;12(4):441-50. doi: 10.1093/hmg/ddg039.
• [25] Genetic disorders associated with postnatal microcephaly.Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16.
• [26] Stimulation of the brain serotonin receptor 7 rescues mitochondrial dysfunction in female mice from two models of Rett syndrome.Neuropharmacology. 2017 Jul 15;121:79-88. doi: 10.1016/j.neuropharm.2017.04.024. Epub 2017 Apr 15.
• [27] Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.Am J Med Genet A. 2019 Jun;179(6):1058-1062. doi: 10.1002/ajmg.a.61131. Epub 2019 Mar 20.
• [28] AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.
• [29] Mutations in JMJD1C are involved in Rett syndrome and intellectual disability. Genet Med. 2016 Apr;18(4):378-85. doi: 10.1038/gim.2015.100. Epub 2015 Jul 16.
• [30] PTP1B inhibition suggests a therapeutic strategy for Rett syndrome.J Clin Invest. 2015 Aug 3;125(8):3163-77. doi: 10.1172/JCI80323. Epub 2015 Jul 27.
• [31] KCC2 expression levels are reduced in post mortem brain tissue of Rett syndrome patients.Acta Neuropathol Commun. 2019 Dec 3;7(1):196. doi: 10.1186/s40478-019-0852-x.
• [32] Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome.Eur J Neurosci. 2007 Apr;25(7):1915-22. doi: 10.1111/j.1460-9568.2007.05466.x.
• [33] 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.Hum Mol Genet. 2007 Mar 15;16(6):691-703. doi: 10.1093/hmg/ddm014. Epub 2007 Mar 5.
• [34] The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function.Neuropharmacology. 2015 Sep;96(Pt B):274-88. doi: 10.1016/j.neuropharm.2015.02.006. Epub 2015 Feb 19.
• [35] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [36] Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder.Free Radic Biol Med. 2015 Sep;86:156-65. doi: 10.1016/j.freeradbiomed.2015.05.010. Epub 2015 May 22.
• [37] Antiglycative Activity and RAGE Expression in Rett Syndrome.Cells. 2019 Feb 15;8(2):161. doi: 10.3390/cells8020161.
• [38] Auditory brainstem response findings in Rett syndrome.Brain Dev. 1987;9(5):514-6. doi: 10.1016/s0387-7604(87)80075-x.
• [39] Site-directed RNA repair of endogenous Mecp2 RNA in neurons.Proc Natl Acad Sci U S A. 2017 Oct 31;114(44):E9395-E9402. doi: 10.1073/pnas.1715320114. Epub 2017 Oct 16.
• [40] A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells.Cell. 2010 Nov 12;143(4):527-39. doi: 10.1016/j.cell.2010.10.016.
• [41] A "new" chromosome marker common to the Rett syndrome and infantile autism? The frequency of fragile sites at X p22 in 81 children with infantile autism, childhood psychosis and the Rett syndrome.Brain Dev. 1985;7(3):365-7. doi: 10.1016/s0387-7604(85)80046-2.
• [42] DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.Am J Hum Genet. 2007 Sep;81(3):492-506. doi: 10.1086/520063. Epub 2007 Aug 2.
• [43] Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.Hum Mol Genet. 2009 Feb 1;18(3):525-34. doi: 10.1093/hmg/ddn380. Epub 2008 Nov 10.
• [44] Reduced folate transport to the CNS in female Rett patients.Neurology. 2003 Aug 26;61(4):506-15. doi: 10.1212/01.wnl.0000078939.64774.1b.
• [45] Evaluation of two X chromosomal candidate genes for Rett syndrome: glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDI1).Am J Med Genet. 1998 Jun 30;78(2):169-72.
• [46] Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome.Am J Med Genet. 1998 Jun 30;78(2):176-8.
• [47] Breathing disturbances in a model of Rett syndrome: A potential involvement of the glycine receptor 3 subunit?.Respir Physiol Neurobiol. 2018 Jan;248:43-47. doi: 10.1016/j.resp.2017.11.011. Epub 2017 Dec 5.
• [48] Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice.Eur J Hum Genet. 2016 Jun;24(6):871-80. doi: 10.1038/ejhg.2015.216. Epub 2015 Oct 7.
• [49] Mutation analysis of the M6b gene in patients with Rett syndrome.Am J Med Genet. 1998 Jun 30;78(2):165-8. doi: 10.1002/(sici)1096-8628(19980630)78:2<165::aid-ajmg13>3.0.co;2-l.
• [50] Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons.Hum Mol Genet. 2014 Jun 1;23(11):2968-80. doi: 10.1093/hmg/ddu008. Epub 2014 Jan 12.
• [51] Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome.J Child Neurol. 2017 Jul;32(8):694-703. doi: 10.1177/0883073817701622. Epub 2017 Apr 11.
• [52] The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.Eur J Hum Genet. 2010 Feb;18(2):163-70. doi: 10.1038/ejhg.2009.152. Epub 2009 Oct 7.
• [53] Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.Genet Med. 2017 Jan;19(1):13-19. doi: 10.1038/gim.2016.42. Epub 2016 May 12.
• [54] Methylation gets SMRT. Functional insights into Rett syndrome.Dev Cell. 2003 Sep;5(3):359-60. doi: 10.1016/s1534-5807(03)00267-3.
• [55] MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain.Hum Genet. 2002 Jun;110(6):545-52. doi: 10.1007/s00439-002-0724-4. Epub 2002 Apr 25.
• [56] The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome.BMC Neurosci. 2011 Aug 8;12:81. doi: 10.1186/1471-2202-12-81.
• [57] Structure of FBP11 WW1-PL ligand complex reveals the mechanism of proline-rich ligand recognition by group II/III WW domains.J Biol Chem. 2006 Dec 29;281(52):40321-9. doi: 10.1074/jbc.M609321200. Epub 2006 Oct 24.
• [58] Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype.Eur J Hum Genet. 2015 Sep;23(9):1171-5. doi: 10.1038/ejhg.2014.249. Epub 2014 Nov 26.
• [59] Differential Regulation of MeCP2 Phosphorylation by Laminin in Oligodendrocytes.J Mol Neurosci. 2017 Aug;62(3-4):309-317. doi: 10.1007/s12031-017-0939-4. Epub 2017 Jun 14.
• [60] Phenotypes and genotypes in individuals with SMC1A variants.Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26.
• [61] Disruption of MeCP2 attenuates circadian rhythm in CRISPR/Cas9-based Rett syndrome model mouse.Genes Cells. 2015 Dec;20(12):992-1005. doi: 10.1111/gtc.12305. Epub 2015 Oct 12.
• [62] X-linked mental deficiency.Handb Clin Neurol. 2013;111:297-306. doi: 10.1016/B978-0-444-52891-9.00035-X.
• [63] First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with angelman-like syndrome.Int J Dev Neurosci. 2019 Dec;79:37-44. doi: 10.1016/j.ijdevneu.2019.10.002. Epub 2019 Oct 21.
• [64] Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.J Mol Biol. 2016 Mar 27;428(6):1130-1141. doi: 10.1016/j.jmb.2016.01.023. Epub 2016 Jan 29.
• [65] Epilepsy and genetic in Rett syndrome: A review.Brain Behav. 2019 May;9(5):e01250. doi: 10.1002/brb3.1250. Epub 2019 Mar 30.
• [66] Correcting deregulated Fxyd1 expression rescues deficits in neuronal arborization and potassium homeostasis in MeCP2 deficient male mice.Brain Res. 2018 Oct 15;1697:45-52. doi: 10.1016/j.brainres.2018.06.013. Epub 2018 Jun 12.
• [67] Reply to "a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype".Ann Neurol. 2018 Feb;83(2):439. doi: 10.1002/ana.25154.
• [68] Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.Hum Mutat. 2020 Feb;41(2):476-486. doi: 10.1002/humu.23945. Epub 2019 Nov 15.
• [69] Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).Birth Defects Res A Clin Mol Teratol. 2010 Feb;88(2):132-5. doi: 10.1002/bdra.20633.
• [70] Binding of MBD proteins to DNA blocks Tet1 function thereby modulating transcriptional noise.Nucleic Acids Res. 2017 Mar 17;45(5):2438-2457. doi: 10.1093/nar/gkw1197.