{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T10:16:34Z","timestamp":1788948994171,"version":"build-2803163510"},"reference-count":163,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T00:00:00Z","timestamp":1753833600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Institutes of Health","award":["R35GM133696"],"award-info":[{"award-number":["R35GM133696"]}]},{"name":"Henry Luce Foundation","award":["R35GM133696"],"award-info":[{"award-number":["R35GM133696"]}]},{"name":"Berthiaume Institute for Precision Health","award":["R35GM133696"],"award-info":[{"award-number":["R35GM133696"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Miller\u2013Dieker Syndrome (MDS) is a rare neurodevelopmental disorder caused by a heterozygous deletion of approximately 26 genes within the MDS locus of human chromosome 17. MDS, which affects 1 in 100,000 babies, can lead to a range of phenotypes, including lissencephaly, severe neurological defects, distinctive facial abnormalities, cognitive impairments, seizures, growth retardation, and congenital heart and liver abnormalities. One hallmark feature of MDS is an unusually smooth brain surface due to abnormal neuronal migration during early brain development. Several genes located within the MDS locus have been implicated in the pathogenesis of MDS, including PAFAH1B1, YWHAE, CRK, and METTL16. These genes play a role in the molecular and cellular pathways that are vital for neuronal migration, the proper development of the cerebral cortex, and protein translation in MDS. Improved model systems, such as MDS patient-derived organoids and multi-omics analyses indicate that WNT\/\u03b2-catenin signaling, calcium signaling, S-adenosyl methionine (SAM) homeostasis, mammalian target of rapamycin (mTOR) signaling, Janus kinase\/signal transducer and activator of transcription (JAK\/STAT) signaling, and others are dysfunctional in MDS. This review of MDS integrates details at the clinical level alongside newly emerging details at the molecular and cellular levels, which may inform the development of novel therapeutic strategies for MDS.<\/jats:p>","DOI":"10.3390\/ijms26157375","type":"journal-article","created":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T14:00:41Z","timestamp":1753884041000},"page":"7375","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Understanding the Molecular Basis of Miller\u2013Dieker Syndrome"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6264-4501","authenticated-orcid":false,"given":"Gowthami","family":"Mahendran","sequence":"first","affiliation":[{"name":"Department of Chemistry and Biochemistry, University of Notre Dame, Notre Dame, IN 46556, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9055-5939","authenticated-orcid":false,"given":"Jessica A.","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Biochemistry, University of Notre Dame, Notre Dame, IN 46556, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/npp.2009.115","article-title":"Normal Development of Brain Circuits","volume":"35","author":"Tau","year":"2010","journal-title":"Neuropsychopharmacology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.neuroscience.2019.03.025","article-title":"Migration and Synaptic Aspects of Neurons Derived from Human Induced Pluripotent Stem Cells from Patients with Focal Cortical Dysplasia II","volume":"408","author":"Majolo","year":"2019","journal-title":"Neuroscience"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"12770","DOI":"10.1073\/pnas.1202944109","article-title":"Modeling Human Cortical Development in Vitro Using Induced Pluripotent Stem Cells","volume":"109","author":"Mariani","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.stem.2016.12.007","article-title":"Human iPSC-Derived Cerebral Organoids Model Cellular Features of Lissencephaly and Reveal Prolonged Mitosis of Outer Radial Glia","volume":"20","author":"Bershteyn","year":"2017","journal-title":"Cell Stem Cell"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"970","DOI":"10.5966\/sctm.2015-0305","article-title":"Rapid Induction of Cerebral Organoids From Human Induced Pluripotent Stem Cells Using a Chemically Defined Hydrogel and Defined Cell Culture Medium","volume":"5","author":"Lindborg","year":"2016","journal-title":"Stem Cells Transl. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.15252\/embj.201694700","article-title":"Self-organized Developmental Patterning and Differentiation in Cerebral Organoids","volume":"36","author":"Renner","year":"2017","journal-title":"EMBO J."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1038\/s41586-019-1289-x","article-title":"Individual Brain Organoids Reproducibly Form Cell Diversity of the Human Cerebral Cortex","volume":"570","author":"Velasco","year":"2019","journal-title":"Nature"},{"key":"ref_8","first-page":"3143","article-title":"SARA Regulates Neuronal Migration during Neocortical Development through L1 Trafficking","volume":"143","author":"Mestres","year":"2016","journal-title":"Development"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/s41593-017-0053-5","article-title":"Mutations in Vps15 Perturb Neuronal Migration in Mice and Are Associated with Neurodevelopmental Disease in Humans","volume":"21","author":"Gstrein","year":"2018","journal-title":"Nat. Neurosci."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Rahimi-Balaei, M., Bergen, H., Kong, J., and Marzban, H. (2018). Neuronal Migration During Development of the Cerebellum. Front. Cell. Neurosci., 12.","DOI":"10.3389\/fncel.2018.00484"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1086\/378096","article-title":"Miller-Dieker Syndrome: Analysis of a Human Contiguous Gene Syndrome in the Mouse","volume":"73","author":"Yingling","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1212\/WNL.13.10.841","article-title":"lissencephaly in 2 siblings","volume":"13","author":"Miller","year":"1963","journal-title":"Neurology"},{"key":"ref_13","first-page":"53","article-title":"The Lissencephaly Syndrom","volume":"5","author":"Dieker","year":"1969","journal-title":"Birth Defects"},{"key":"ref_14","first-page":"1437","article-title":"Mutations in ARX Result in Several Defects Involving GABAergic Neurons","volume":"4","author":"Friocourt","year":"2010","journal-title":"Front. Cell. Neurosci."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1038\/ejhg.2008.213","article-title":"Intragenic Deletions and Duplications of the LIS1 and DCX Genes: A Major Disease-Causing Mechanism in Lissencephaly and Subcortical Band Heterotopia","volume":"17","author":"Haverfield","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1093\/brain\/aws323","article-title":"New Insights into Genotype-Phenotype Correlations for the Doublecortin-Related Lissencephaly Spectrum","volume":"136","author":"Souville","year":"2013","journal-title":"Brain"},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Su\u00e1rez-Vega, A., Guti\u00e9rrez-Gil, B., Cuchillo-Ib\u00e1\u00f1ez, I., S\u00e1ez-Valero, J., P\u00e9rez, V., Garc\u00eda-G\u00e1mez, E., Benavides, J., and Arranz, J.J. (2013). Identification of a 31-Bp Deletion in the RELN Gene Causing Lissencephaly with Cerebellar Hypoplasia in Sheep. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0081072"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1038\/s41586-024-08341-9","article-title":"Dysregulation of mTOR Signalling Is a Converging Mechanism in Lissencephaly","volume":"638","author":"Zhang","year":"2025","journal-title":"Nature"},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Leibovitz, Z., Lerman-Sagie, T., and Haddad, L. (2022). Fetal Brain Development: Regulating Processes and Related Malformations. Life, 12.","DOI":"10.3390\/life12060809"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/S0022-3476(83)80183-8","article-title":"Miller-Dieker Syndrome: Lissencephaly Andmonosomy 17p","volume":"102","author":"Dobyns","year":"1983","journal-title":"J. Pediatr."},{"key":"ref_21","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J., Gripp, K.W., and Amemiya, A. (1993). PAFAH1B1-Related Lissencephaly\/Subcortical Band Heterotopia. GeneReviews\u00ae, University of Washington."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1136\/jmg.35.11.920","article-title":"Classical Lissencephaly Syndromes: Does the Face Reflect the Brain?","volume":"35","author":"Allanson","year":"1998","journal-title":"J. Med. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1086\/374320","article-title":"Refinement of a 400-Kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3","volume":"72","author":"Cardoso","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1007\/s00401-005-0010-3","article-title":"Neocortical Neuronal Arrangement in Miller Dieker Syndrome","volume":"111","author":"Sheen","year":"2006","journal-title":"Acta Neuropathol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1136\/jmg.2009.067637","article-title":"Microdeletions Including YWHAE in the Miller-Dieker Syndrome Region on Chromosome 17p13.3 Result in Facial Dysmorphisms, Growth Restriction, and Cognitive Impairment","volume":"46","author":"Nagamani","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1136\/jmg.2009.069906","article-title":"Further Molecular and Clinical Delineation of Co-Locating 17p13.3 Microdeletions and Microduplications That Show Distinctive Phenotypes","volume":"47","author":"Bruno","year":"2010","journal-title":"J. Med. Genet."},{"key":"ref_27","first-page":"36","article-title":"17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation","volume":"8","author":"Cendes","year":"2016","journal-title":"Mol. Syndromol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"225","DOI":"10.4103\/ipcares.ipcares_64_23","article-title":"Infantile Spasms and Developmental Delay: A Case of Miller\u2013Dieker Syndrome","volume":"3","author":"George","year":"2023","journal-title":"Indian Pediatr. Case Rep."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/S0022-3476(83)80184-X","article-title":"A Spectrum of Gyral Anomalies in Miller-Dieker (Lissencephaly) Syndrome","volume":"102","author":"Clarren","year":"1983","journal-title":"J. Pediatr."},{"key":"ref_30","first-page":"267","article-title":"The Miller-Dieker Syndrome: A Case Report and Review of the Literature","volume":"33","author":"Izmeth","year":"1989","journal-title":"J. Ment. Defic. Res."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1136\/jmg.2008.065094","article-title":"A New Microduplication Syndrome Encompassing the Region of the Miller-Dieker (17p13 Deletion) Syndrome","volume":"46","author":"Roos","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1007\/s004010051145","article-title":"A Case of Miller-Dieker Syndrome in a Family with Neurofibromatosis Type I","volume":"99","author":"King","year":"2000","journal-title":"Acta Neuropathol."},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Balogh, E.P., Miller, B.T., and Ball, J.R. (2015). Improving Diagnosis in Health Care, National Academies Press.","DOI":"10.17226\/21794"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/S0733-8619(18)30830-2","article-title":"The Neurogenetics of Lissencephaly","volume":"7","author":"Dobyns","year":"1989","journal-title":"Neurol. Clin."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1159\/000521629","article-title":"Crk Haploinsufficiency Is Associated with Intrauterine Growth Retardation and Severe Postnatal Growth Failure","volume":"94","author":"Deodati","year":"2022","journal-title":"Horm. Res. Paediatr."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.ejmg.2010.06.009","article-title":"Further Delineation of the 17p13.3 Microdeletion Involving YWHAE but Distal to PAFAH1B1: Four Additional Patients","volume":"53","author":"Schiff","year":"2010","journal-title":"Eur. J. Med. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"252","DOI":"10.30743\/ibnusina.v23i2.655","article-title":"6-month-old infant with lissencephaly type i associated with miller dieker syndrome: A case report","volume":"23","author":"Asih","year":"2024","journal-title":"Ibnu Sina J. Kedokt. Dan Kesehat.-Fak. Kedokt. Univ. Islam Sumat. Utara"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"e63925","DOI":"10.1002\/ajmg.a.63925","article-title":"Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods","volume":"197","author":"Kim","year":"2024","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1055\/s-0033-1364192","article-title":"Miller\u2013Dieker Syndrome Associated with Congenital Lobar Emphysema","volume":"4","author":"Mahgoub","year":"2014","journal-title":"AJP Rep."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1159\/000477920","article-title":"Miller-Dieker Syndrome Due to a 5.5-Mb 17p Deletion in a 17;Y Pseudodicentric Chromosome","volume":"152","author":"Bellucco","year":"2017","journal-title":"Cytogenet. Genome Res."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1177\/0883073810379638","article-title":"Deletion of 14-3-3{varepsilon} and CRK: A Clinical Syndrome with Macrocephaly, Developmental Delay, and Generalized Epilepsy","volume":"26","author":"Tenney","year":"2011","journal-title":"J. Child Neurol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1212\/CPJ.0b013e318278be63","article-title":"Brain and Spinal Manifestations of Miller-Dieker Syndrome","volume":"3","author":"Hsieh","year":"2013","journal-title":"Neurol. Clin. Pract."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1111\/j.1399-0004.1995.tb03951.x","article-title":"Clinical and Molecular Genetic Findings in Five Patients with Miller-Dieker Syndrome","volume":"47","author":"Hain","year":"1995","journal-title":"Clin. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.pediatrneurol.2008.11.008","article-title":"Classical (Type I) Lissencephaly and Miller-Dieker Syndrome","volume":"40","author":"Matarese","year":"2009","journal-title":"Pediatr. Neurol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"100664","DOI":"10.1016\/j.ebr.2024.100664","article-title":"Infantile Epileptic Spasms Syndrome in a Child with Lissencephaly Associated with de Novo PAFAH1B1 vAriant and Coincidental CMV Infection","volume":"26","author":"Nie","year":"2024","journal-title":"Epilepsy Behav. Rep."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/j.radcr.2024.10.067","article-title":"Lissencephaly with Subcortical Band Heterotopia in an East African Child: A Case Report","volume":"20","author":"Ngowi","year":"2025","journal-title":"Radiol. Case Rep."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1111\/j.1469-8749.2011.03937.x","article-title":"Long-Term Follow-up of Type 1 Lissencephaly: Survival Is Related to Neuroimaging Abnormalities","volume":"53","author":"Halley","year":"2011","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1136\/jmg.33.4.319","article-title":"Syndromes with Lissencephaly","volume":"33","author":"Pilz","year":"1996","journal-title":"J. Med. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<293::AID-AJMG15>3.0.CO;2-M","article-title":"Omphalocele in Miller-Dieker Syndrome: Expanding the Phenotype","volume":"69","author":"Chitayat","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"7739","DOI":"10.3748\/wjg.v20.i24.7739","article-title":"Percutaneous Endoscopic Gastrostomy: Indications, Technique, Complications and Management","volume":"20","author":"Rahnemaiazar","year":"2014","journal-title":"World J. Gastroenterol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1002\/ajmg.a.63057","article-title":"Further Expansion and Confirmation of Phenotype in Rare Loss of YWHAE Gene Distinct from Miller\u2013Dieker Syndrome","volume":"191","author":"Baker","year":"2023","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/cga.12193","article-title":"Miller-Dieker Syndrome with Unbalanced Translocation 45, X, Psu Dic(17;Y)(P13;P11.32) Detected by Fluorescence in Situ Hybridization and G-Banding Analysis Using High Resolution Banding Technique","volume":"57","author":"Mishima","year":"2017","journal-title":"Congenit. Anom."},{"key":"ref_53","unstructured":"(2025, January 08). Ensembl Genome Browser 113. Available online: https:\/\/useast.ensembl.org\/index.html."},{"key":"ref_54","unstructured":"(2025, January 14). UCSC Genome Browser Home. Available online: https:\/\/genome.ucsc.edu\/index.html."},{"key":"ref_55","unstructured":"(2025, March 22). BioRender. Available online: https:\/\/app.biorender.com\/gallery\/illustrations\/folder\/679577296b485b59c62e700b."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1002\/uog.1777","article-title":"Prenatal Ultrasound Findings of Lissencephaly Associated with Miller\u2013Dieker Syndrome and Comparison with Pre- and Postnatal Magnetic Resonance Imaging","volume":"24","author":"Fong","year":"2004","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/uog.248","article-title":"OC029: Lissencephaly: Prenatal Ultrasound Findings in a Review of 16 Cases","volume":"22","author":"Fong","year":"2003","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1111\/dmcn.15985","article-title":"Whole Genome Sequencing for Copy Number Variant Detection to Improve Diagnosis and Management of Rare Diseases","volume":"67","author":"Bowman","year":"2025","journal-title":"Dev. Med. Child. Neurol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1001\/archpedi.1993.02160360033012","article-title":"Miller-Dieker Syndrome: Detection of a Cryptic Chromosome Translocation Using In Situ Hybridization in a Family With Multiple Affected Offspring","volume":"147","author":"Alvarado","year":"1993","journal-title":"Am. J. Dis. Child."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"R89","DOI":"10.1093\/hmg\/ddg086","article-title":"Lissencephaly and the Molecular Basis of Neuronal Migration","volume":"12","author":"Kato","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"5073","DOI":"10.1007\/s12035-024-04532-7","article-title":"Multi-Omics Approach Reveals Genes and Pathways Affected in Miller-Dieker Syndrome","volume":"62","author":"Mahendran","year":"2024","journal-title":"Mol. Neurobiol."},{"key":"ref_62","unstructured":"(2024, December 25). Ingenuity Pathways Analysis (IPA)|NIH Library, Available online: https:\/\/www.nihlibrary.nih.gov\/resources\/tools\/ingenuity-pathways-analysis-ipa."},{"key":"ref_63","doi-asserted-by":"crossref","unstructured":"Liu, X., Bennison, S.A., Robinson, L., and Toyo-oka, K. (2021). Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3\u03b5). Brain Sci., 12.","DOI":"10.3390\/brainsci12010056"},{"key":"ref_64","unstructured":"GO Enrichment Analysis (2024, December 25). Gene Ontology Resource. Available online: http:\/\/geneontology.org\/docs\/go-enrichment-analysis\/."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1038\/ng1169","article-title":"14-3-3epsilon Is Important for Neuronal Migration by Binding to NUDEL: A Molecular Explanation for Miller-Dieker Syndrome","volume":"34","author":"Shionoya","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"5579","DOI":"10.1093\/hmg\/ddu273","article-title":"Role of OVCA1\/DPH1 in Craniofacial Abnormalities of Miller\u2013Dieker Syndrome","volume":"23","author":"Yu","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.ejmg.2011.09.004","article-title":"Further Delineation of 17p13.3 Microdeletion Involving CRK. The Effect of Growth Hormone Treatment","volume":"55","author":"Brandt","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"ref_68","unstructured":"Bissonnette, B., Luginbuehl, I., Marciniak, B., and Dalens, B.J. (2006). Miller-Dieker Lissencephaly Syndrome. Syndromes: Rapid Recognition and Perioperative Implications, The McGraw-Hill Companies."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Blazejewski, S.M., Bennison, S.A., Smith, T.H., and Toyo-Oka, K. (2018). Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3. Front. Genet., 9.","DOI":"10.3389\/fgene.2018.00080"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S1028-4559(10)60015-0","article-title":"Ventriculomegaly, Intrauterine Growth Restriction, and Congenital Heart Defects as Salient Prenatal Sonographic Findings of Miller-Dieker Lissencephaly Syndrome Associated with Monosomy 17p (17p13.2 --> Pter) in a Fetus","volume":"49","author":"Chen","year":"2010","journal-title":"Taiwan J. Obstet. Gynecol."},{"key":"ref_71","first-page":"49","article-title":"Miller-Dieker Syndrome with Der(17)t(12;17)(Q24.33;P13.3)Pat Presenting with a Potential Risk of Mis-Identification as a de Novo Submicroscopic Deletion of 17p13.3","volume":"31","author":"Kim","year":"2011","journal-title":"Korean J. Lab. Med."},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Hadj Amor, M., Dimassi, S., Taj, A., Slimani, W., Hannachi, H., Mlika, A., Ben Helel, K., Saad, A., and Mougou-Zerelli, S. (2020). Neuronal Migration Genes and a Familial Translocation t (3;17): Candidate Genes Implicated in the Phenotype. BMC Med. Genet., 21.","DOI":"10.1186\/s12881-020-0966-9"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1111\/ahg.12407","article-title":"Prenatal Diagnosis of Miller\u2013Dieker Syndrome by Chromosomal Microarray","volume":"85","author":"Shi","year":"2021","journal-title":"Ann. Hum. Genet."},{"key":"ref_74","unstructured":"Zillich, L., Gasparotto, M., Rossetti, A.C., Fechtner, O., Maillard, C., Hoffrichter, A., Zillich, E., Jabali, A., Marsoner, F., and Artioli, A. (2025). Capturing the Biology of Disease Severity in an Organoid Model of LIS1-Lissencephaly. bioRxiv."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.celrep.2017.03.047","article-title":"An Organoid-Based Model of Cortical Development Identifies Non-Cell-Autonomous Defects in Wnt Signaling Contributing to Miller-Dieker Syndrome","volume":"19","author":"Iefremova","year":"2017","journal-title":"Cell Rep."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.cell.2006.12.017","article-title":"Mutations in Alpha-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans","volume":"128","author":"Keays","year":"2007","journal-title":"Cell"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"dev163766","DOI":"10.1242\/dev.163766","article-title":"Neuronal Migration in the CNS during Development and Disease: Insights from in Vivo and in Vitro Models","volume":"146","author":"Buchsbaum","year":"2019","journal-title":"Development"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1111\/j.1399-0004.2007.00888.x","article-title":"Lissencephaly and LIS1: Insights into the Molecular Mechanisms of Neuronal Migration and Development","volume":"72","year":"2007","journal-title":"Clin. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/wdev.67","article-title":"Cytoskeleton in Action: Lissencephaly, a Neuronal Migration Disorder","volume":"2","author":"Moon","year":"2013","journal-title":"Wiley Interdiscip. Rev. Dev. Biol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1093\/hmg\/ddt436","article-title":"LIS1 Controls Mitosis and Mitotic Spindle Organization via the LIS1\u2013NDEL1\u2013Dynein Complex","volume":"23","author":"Moon","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/1221","article-title":"Graded Reduction of Pafah1b1 (Lis1) Activity Results in Neuronal Migration Defects and Early Embryonic Lethality","volume":"19","author":"Hirotsune","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"4405","DOI":"10.1093\/hmg\/ddw270","article-title":"Regulation of Neuronal Morphogenesis by 14-3-3epsilon (Ywhae) via the Microtubule Binding Protein, Doublecortin","volume":"25","author":"Cornell","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1083\/jcb.201211052","article-title":"Lissencephaly-1 Promotes the Recruitment of Dynein and Dynactin to Transported mRNAs","volume":"202","author":"Dix","year":"2013","journal-title":"J. Cell Biol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1038\/s41556-020-0501-4","article-title":"Lis1 Activates Dynein Motility by Modulating Its Pairing with Dynactin","volume":"22","author":"Elshenawy","year":"2020","journal-title":"Nat. Cell Biol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"12168","DOI":"10.1523\/JNEUROSCI.2513-13.2014","article-title":"14-3-3\u03b5 and \u03b6 Regulate Neurogenesis and Differentiation of Neuronal Progenitor Cells in the Developing Brain","volume":"34","author":"Wachi","year":"2014","journal-title":"J. Neurosci."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.neuron.2004.09.030","article-title":"Ndel1 Operates in a Common Pathway with LIS1 and Cytoplasmic Dynein to Regulate Cortical Neuronal Positioning","volume":"44","author":"Shu","year":"2004","journal-title":"Neuron"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"e0350-17.2018","DOI":"10.1523\/ENEURO.0350-17.2018","article-title":"An Essential Postdevelopmental Role for Lis1 in Mice","volume":"5","author":"Hines","year":"2018","journal-title":"eNeuro"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"100835","DOI":"10.1016\/j.gim.2023.100835","article-title":"YWHAE Loss of Function Causes a Rare Neurodevelopmental Disease with Brain Abnormalities in Human and Mouse","volume":"25","author":"Collins","year":"2023","journal-title":"Genet. Med."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"13551","DOI":"10.1523\/JNEUROSCI.4323-08.2008","article-title":"Crk and Crk-like Play Essential Overlapping Roles Downstream of Disabled-1 in the Reelin Pathway","volume":"28","author":"Park","year":"2008","journal-title":"J. Neurosci."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.seizure.2024.01.020","article-title":"Clinical Analysis of PAFAH1B1 Gene Variants in Pediatric Patients with Epilepsy","volume":"117","author":"Feng","year":"2024","journal-title":"Seizure Eur. J. Epilepsy"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1038\/s41556-021-00835-2","article-title":"METTL16 Exerts an m6A-Independent Function to Facilitate Translation and Tumorigenesis","volume":"24","author":"Su","year":"2022","journal-title":"Nat. Cell Biol."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1542\/peds.66.2.277","article-title":"The MIller-Dieker Syndrome","volume":"66","author":"Jones","year":"1980","journal-title":"Pediatrics"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s40981-015-0017-2","article-title":"Management of General Anesthesia in a Child with Miller\u2013Dieker Syndrome: A Case Report","volume":"1","author":"Wakiguchi","year":"2015","journal-title":"JA Clin. Rep."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1136\/jmg.2009.069112","article-title":"Deletion of YWHAE in a Patient with Periventricular Heterotopias and Pronounced Corpus Callosum Hypoplasia","volume":"47","author":"Cacciagli","year":"2010","journal-title":"J. Med. Genet."},{"key":"ref_95","doi-asserted-by":"crossref","unstructured":"Jugessur, A., Shi, M., Gjessing, H.K., Lie, R.T., Wilcox, A.J., Weinberg, C.R., Christensen, K., Boyles, A.L., Daack-Hirsch, S., and Nguyen, T.T. (2010). Maternal Genes and Facial Clefts in Offspring: A Comprehensive Search for Genetic Associations in Two Population-Based Cleft Studies from Scandinavia. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0011493"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"2322","DOI":"10.1093\/brain\/awx195","article-title":"Delineating SPTAN1 Associated Phenotypes: From Isolated Epilepsy to Encephalopathy with Progressive Brain Atrophy","volume":"140","author":"Syrbe","year":"2017","journal-title":"Brain"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1055\/s-0039-1698971","article-title":"The Genetic Basis of Facial Skeletal Characteristics and Its Relation with Orthodontics","volume":"6","author":"Cakan","year":"2012","journal-title":"Eur. J. Dent."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1093\/hmg\/ddy416","article-title":"TUBA1A Mutations Identified in Lissencephaly Patients Dominantly Disrupt Neuronal Migration and Impair Dynein Activity","volume":"28","author":"Aiken","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"2817","DOI":"10.1093\/hmg\/ddq182","article-title":"TUBA1A Mutations Cause Wide Spectrum Lissencephaly (Smooth Brain) and Suggest That Multiple Neuronal Migration Pathways Converge on Alpha Tubulins","volume":"19","author":"Kumar","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.ajhg.2011.04.003","article-title":"Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly","volume":"88","author":"Alkuraya","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/ejhg.2008.221","article-title":"Treacher Collins Syndrome: Etiology, Pathogenesis and Prevention","volume":"17","author":"Trainor","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1007\/s12311-008-0075-3","article-title":"Expression of GABAB Receptors Is Altered in Brains of Subjects with Autism","volume":"8","author":"Fatemi","year":"2009","journal-title":"Cerebellum"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.seizure.2023.09.021","article-title":"Epilepsy-Associated Genes: An Update","volume":"116","author":"Zhang","year":"2024","journal-title":"Seizure\u2014Eur. J. Epilepsy"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/S0022-510X(02)00461-6","article-title":"Cellular Compartmentalization of Phosphorylated eIF2alpha and Neuronal NOS in Human Temporal Lobe Epilepsy with Hippocampal Sclerosis","volume":"209","author":"Petrov","year":"2003","journal-title":"J. Neurol. Sci."},{"key":"ref_105","doi-asserted-by":"crossref","unstructured":"Huang, Y., Wu, H., Hu, Y., Zhou, C., Wu, J., Wu, Y., Wang, H., Lenahan, C., Huang, L., and Nie, S. (2022). Puerarin Attenuates Oxidative Stress and Ferroptosis via AMPK\/PGC1\u03b1\/Nrf2 Pathway after Subarachnoid Hemorrhage in Rats. Antioxidants, 11.","DOI":"10.3390\/antiox11071259"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"14646","DOI":"10.1073\/pnas.1211591109","article-title":"Specific Deletion of NaV1.1 Sodium Channels in Inhibitory Interneurons Causes Seizures and Premature Death in a Mouse Model of Dravet Syndrome","volume":"109","author":"Cheah","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"9823","DOI":"10.1074\/jbc.M109.078568","article-title":"Altered Function of the SCN1A Voltage-Gated Sodium Channel Leads to \u03b3-Aminobutyric Acid-Ergic (GABAergic) Interneuron Abnormalities","volume":"285","author":"Martin","year":"2010","journal-title":"J. Biol. Chem."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"1726","DOI":"10.1002\/acn3.51150","article-title":"Modulation of GABAergic Dysfunction Due to SCN1A Mutation Linked to Hippocampal Sclerosis","volume":"7","author":"Ruffolo","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"162","DOI":"10.14734\/PN.2017.28.4.162","article-title":"Miller-Dieker Syndrome in an Extremely Low Birth Weight Infant","volume":"28","author":"Park","year":"2017","journal-title":"Perinatology"},{"key":"ref_110","doi-asserted-by":"crossref","unstructured":"Park, S.J., Baek, J., Chun, S., and Choi, E.K. (2023). Anesthetic Management and Bispectral Index in a Child with Miller\u2013Dieker Syndrome: A Case Report. Children, 10.","DOI":"10.3390\/children10040631"},{"key":"ref_111","doi-asserted-by":"crossref","unstructured":"Mohanan, A.G., Gunasekaran, S., Jacob, R.S., and Omkumar, R.V. (2022). Role of Ca2+\/Calmodulin-Dependent Protein Kinase Type II in Mediating Function and Dysfunction at Glutamatergic Synapses. Front. Mol. Neurosci., 15.","DOI":"10.3389\/fnmol.2022.855752"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"112150","DOI":"10.1016\/j.celrep.2023.112150","article-title":"METTL16 Promotes Translation and Lung Tumorigenesis by Sequestering Cytoplasmic eIF4E2","volume":"42","author":"Wang","year":"2023","journal-title":"Cell Rep."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"115966","DOI":"10.1016\/j.celrep.2025.115966","article-title":"The Catalytic Efficiency of METTL16 Affects Cellular Processes by Governing the Intracellular S-Adenosylmethionine Setpoint","volume":"44","author":"Flaherty","year":"2025","journal-title":"Cell Rep."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"3754","DOI":"10.1016\/j.celrep.2017.11.106","article-title":"Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias","volume":"21","author":"Woodworth","year":"2017","journal-title":"Cell Rep."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"e58737","DOI":"10.7554\/eLife.58737","article-title":"mTOR Signaling Regulates the Morphology and Migration of Outer Radial Glia in Developing Human Cortex","volume":"9","author":"Andrews","year":"2020","journal-title":"Elife"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1016\/j.neuron.2016.09.005","article-title":"Transformation of the Radial Glia Scaffold Demarcates Two Stages of Human Cerebral Cortex Development","volume":"91","author":"Nowakowski","year":"2016","journal-title":"Neuron"},{"key":"ref_117","doi-asserted-by":"crossref","unstructured":"Girodengo, M., Ultanir, S.K., and Bateman, J.M. (2022). Mechanistic Target of Rapamycin Signaling in Human Nervous System Development and Disease. Front. Mol. Neurosci., 15.","DOI":"10.3389\/fnmol.2022.1005631"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.mcn.2008.06.003","article-title":"Mammalian Target of Rapamycin (mTOR) Is Involved in the Neuronal Differentiation of Neural Progenitors Induced by Insulin","volume":"39","author":"Han","year":"2008","journal-title":"Mol. Cell. Neurosci."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/s41593-017-0057-1","article-title":"N6-Methyladenosine RNA Modification Regulates Embryonic Neural Stem Cell Self-Renewal through Histone Modifications","volume":"21","author":"Wang","year":"2018","journal-title":"Nat. Neurosci."},{"key":"ref_120","first-page":"3936","article-title":"Fragile X Mental Retardation Protein Modulates the Stability of Its m6A-Marked Messenger RNA Targets","volume":"27","author":"Zhang","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1007\/s00335-024-10095-8","article-title":"Integrative Approaches to m6A and m5C RNA Modifications in Autism Spectrum Disorder Revealing Potential Causal Variants","volume":"36","author":"Jan","year":"2025","journal-title":"Mamm. Genome"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"5006","DOI":"10.1007\/s12035-024-04555-0","article-title":"Global Co-Regulatory Cross Talk Between m6A and m5C RNA Methylation Systems Coordinate Cellular Responses and Brain Disease Pathways","volume":"62","author":"Orji","year":"2025","journal-title":"Mol. Neurobiol."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/s13024-021-00484-x","article-title":"METTL3-Dependent RNA m6A Dysregulation Contributes to Neurodegeneration in Alzheimer\u2019s Disease through Aberrant Cell Cycle Events","volume":"16","author":"Zhao","year":"2021","journal-title":"Mol. Neurodegener."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"136907","DOI":"10.1016\/j.neulet.2022.136907","article-title":"Analysis of m6A Modification Regulators in the Substantia Nigra and Striatum of MPTP-Induced Parkinson\u2019s Disease Mice","volume":"791","author":"Yu","year":"2022","journal-title":"Neurosci. Lett."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1038\/s41594-023-00969-x","article-title":"The RNA m6A Landscape of Mouse Oocytes and Preimplantation Embryos","volume":"30","author":"Wang","year":"2023","journal-title":"Nat. Struct. Mol. Biol."},{"key":"ref_126","doi-asserted-by":"crossref","unstructured":"Wang, J., Sha, Y., and Sun, T. (2021). m6A Modifications Play Crucial Roles in Glial Cell Development and Brain Tumorigenesis. Front. Oncol., 11.","DOI":"10.3389\/fonc.2021.611660"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1038\/s41420-022-01220-0","article-title":"Knockdown of METTL16 Disrupts Learning and Memory by Reducing the Stability of MAT2A mRNA","volume":"8","author":"Zhang","year":"2022","journal-title":"Cell Death Discov."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1016\/j.cell.2017.05.003","article-title":"The U6 snRNA m6A Methyltransferase METTL16 Regulates SAM Synthetase Intron Retention","volume":"169","author":"Pendleton","year":"2017","journal-title":"Cell"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"5636","DOI":"10.1038\/s41467-019-13561-z","article-title":"Atlas of Quantitative Single-Base-Resolution N6-Methyl-Adenine Methylomes","volume":"10","author":"Koh","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"2196","DOI":"10.1021\/acscentsci.0c01094","article-title":"meCLICK-Seq, a Substrate-Hijacking and RNA Degradation Strategy for the Study of RNA Methylation","volume":"6","author":"Mikutis","year":"2020","journal-title":"ACS Cent. Sci."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.ebcr.2019.01.001","article-title":"Perampanel in Lissencephaly-Associated Epilepsy","volume":"11","author":"Ikemoto","year":"2019","journal-title":"Epilepsy Behav. Case Rep."},{"key":"ref_132","doi-asserted-by":"crossref","unstructured":"Elmardenly, A., Aljehani, Z., Tamim, A., Alyazidi, A., and Muthaffar, O. (2023). Efficacy and Safety of Perampanel in Children with Drug-Resistant Focal-Onset Seizures: A Retrospective Review. Children, 10.","DOI":"10.3390\/children10061071"},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"100670","DOI":"10.1016\/j.ebr.2024.100670","article-title":"Total Callosotomy Ameliorates Epileptic Activity and Improves Cognitive Function in a Patient with Miller-Dieker Syndrome","volume":"26","author":"Fukuoka","year":"2024","journal-title":"Epilepsy Behav. Rep."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1159\/000197864","article-title":"Diminished Presynaptic GABAB Receptor Function in the Neocortex of a Genetic Model of Absence Epilepsy","volume":"17","author":"Inaba","year":"2009","journal-title":"Neurosignals"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1006\/exnr.2002.8002","article-title":"Mechanisms Underlying Suppression of Protein Synthesis Induced by Transient Focal Cerebral Ischemia in Mouse Brain","volume":"177","author":"Mengesdorf","year":"2002","journal-title":"Exp. Neurol."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"109259","DOI":"10.1016\/j.isci.2024.109259","article-title":"Translational Modulator ISRIB Alleviates Synaptic and Behavioral Phenotypes in Fragile X Syndrome","volume":"27","author":"Coulson","year":"2024","journal-title":"iScience"},{"key":"ref_137","doi-asserted-by":"crossref","unstructured":"Sandouka, S., and Shekh-Ahmad, T. (2021). Induction of the Nrf2 Pathway by Sulforaphane Is Neuroprotective in a Rat Temporal Lobe Epilepsy Model. Antioxidants, 10.","DOI":"10.3390\/antiox10111702"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"18348","DOI":"10.3390\/ijms160818348","article-title":"Overview of Nrf2 as Therapeutic Target in Epilepsy","volume":"16","author":"Sampieri","year":"2015","journal-title":"Int. J. Mol. Sci."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"5144","DOI":"10.1523\/JNEUROSCI.4658-15.2016","article-title":"Inhibition of the JAK\/STAT Pathway Protects Against \u03b1-Synuclein-Induced Neuroinflammation and Dopaminergic Neurodegeneration","volume":"36","author":"Qin","year":"2016","journal-title":"J. Neurosci."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1038\/s41467-021-21330-0","article-title":"Machine Learning Identifies Candidates for Drug Repurposing in Alzheimer\u2019s Disease","volume":"12","author":"Rodriguez","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"23603","DOI":"10.18632\/aging.203628","article-title":"Resveratrol Promotes Axonal Regeneration after Spinal Cord Injury through Activating Wnt\/\u03b2-Catenin Signaling Pathway","volume":"13","author":"Xiang","year":"2021","journal-title":"Aging"},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.neuroscience.2019.06.038","article-title":"Minocycline Preserves the Integrity and Permeability of BBB by Altering the Activity of DKK1\u2013Wnt Signaling in ICH Model","volume":"415","author":"Wang","year":"2019","journal-title":"Neuroscience"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"S125","DOI":"10.3233\/JAD-220559","article-title":"Resveratrol Mediated Regulation of Hippocampal Neuroregenerative Plasticity via SIRT1 Pathway in Synergy with Wnt Signaling: Neurotherapeutic Implications to Mitigate Memory Loss in Alzheimer\u2019s Disease","volume":"94","author":"Surya","year":"2023","journal-title":"J. Alzheimers Dis."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"14232","DOI":"10.18632\/aging.103440","article-title":"Minocycline Inhibition of Microglial Rescues Nigrostriatal Dopaminergic Neurodegeneration Caused by Mutant Alpha-Synuclein Overexpression","volume":"12","author":"Wang","year":"2020","journal-title":"Aging"},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1001\/archneurol.2010.191","article-title":"Prospects for Minocycline Neuroprotection","volume":"67","author":"Plane","year":"2010","journal-title":"Arch. Neurol."},{"key":"ref_146","doi-asserted-by":"crossref","unstructured":"Ren, Q., Zhang, G., Yan, R., Zhou, D., Huang, L., Zhang, Q., Li, W., Huang, G., Li, Z., and Yan, J. (2023). SAM\/SAH Mediates Parental Folate Deficiency-Induced Neural Cell Apoptosis in Neonatal Rat Offspring: The Expression of Bcl-2, Bax, and Caspase-3. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms241914508"},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"2811","DOI":"10.1093\/jn\/131.11.2811","article-title":"Intracellular S-Adenosylhomocysteine Concentrations Predict Global DNA Hypomethylation in Tissues of Methyl-Deficient Cystathionine \u03b2-Synthase Heterozygous Mice","volume":"131","author":"Caudill","year":"2001","journal-title":"J. Nutr."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"2845","DOI":"10.1093\/jn\/133.9.2845","article-title":"Betaine Lowers Elevated S-Adenosylhomocysteine Levels in Hepatocytes from Ethanol-Fed Rats","volume":"133","author":"Barak","year":"2003","journal-title":"J. Nutr."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"2542","DOI":"10.1172\/JCI126859","article-title":"Sestrin Modulator NV-5138 Produces Rapid Antidepressant Effects via Direct mTORC1 Activation","volume":"129","author":"Kato","year":"2019","journal-title":"J. Clin. Investig."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/s12974-017-0797-6","article-title":"Everolimus Is Better than Rapamycin in Attenuating Neuroinflammation in Kainic Acid-Induced Seizures","volume":"14","author":"Yang","year":"2017","journal-title":"J. Neuroinflamm."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1111\/joa.12956","article-title":"New Insights into a Spectrum of Developmental Malformations Related to mTOR Dysregulations: Challenges and Perspectives","volume":"235","author":"Bongaarts","year":"2019","journal-title":"J. Anat."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"5536","DOI":"10.1074\/jbc.273.10.5536","article-title":"Nerve and Epidermal Growth Factor Induce Protein Synthesis and eIF2B Activation in PC12 Cells","volume":"273","author":"Kleijn","year":"1998","journal-title":"J. Biol. Chem."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1093\/pcmedi\/pbab021","article-title":"CRISPR\/Cas9 Mediated Somatic Gene Therapy for Insertional Mutations: The Vibrator Mouse Model","volume":"4","author":"Fu","year":"2021","journal-title":"Precis. Clin. Med."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1093\/hmg\/6.2.157","article-title":"Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome","volume":"6","author":"Chong","year":"1997","journal-title":"Human Mol. Genet."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/s43018-020-0040-8","article-title":"Direct Genome Editing of Patient-Derived Xenografts Using CRISPR-Cas9 Enables Rapid in Vivo Functional Genomics","volume":"1","author":"Hulton","year":"2020","journal-title":"Nat. Cancer"},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"2235","DOI":"10.1056\/NEJMoa2504747","article-title":"Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease","volume":"392","author":"Musunuru","year":"2025","journal-title":"N. Engl. J. Med."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1038\/s41434-024-00480-y","article-title":"Lentiviral Vector Gene Therapy and CFTR Modulators Show Comparable Effectiveness in Cystic Fibrosis Rat Airway Models","volume":"31","author":"McCarron","year":"2024","journal-title":"Gene Ther."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"6721","DOI":"10.1093\/hmg\/ddv377","article-title":"miR-132\/212 Deficiency Impairs Tau Metabolism and Promotes Pathological Aggregation in Vivo","volume":"24","author":"Smith","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1007\/s00401-018-1880-5","article-title":"MicroRNA-132 Provides Neuroprotection for Tauopathies via Multiple Signaling Pathways","volume":"136","author":"Li","year":"2018","journal-title":"Acta Neuropathol."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1016\/j.nbd.2007.11.001","article-title":"A microRNA-Based Gene Dysregulation Pathway in Huntington\u2019s Disease","volume":"29","author":"Johnson","year":"2008","journal-title":"Neurobiol. Dis."},{"key":"ref_161","doi-asserted-by":"crossref","unstructured":"Jovicic, A., Zaldivar Jolissaint, J.F., Moser, R., Silva Santos, M.d.F., and Luthi-Carter, R. (2013). MicroRNA-22 (miR-22) Overexpression Is Neuroprotective via General Anti-Apoptotic Effects and May Also Target Specific Huntington\u2019s Disease-Related Mechanisms. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0054222"},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"104991","DOI":"10.1016\/j.ejmg.2024.104991","article-title":"Heterozygous Inversion on Chromosome 17 Involving PAFAH1B1 Detected by Whole Genome Sequencing in a Patient Suffering from Pachygyria","volume":"73","author":"Chen","year":"2025","journal-title":"Eur. J. Med. Genet."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"e248190","DOI":"10.1136\/bcr-2021-248190","article-title":"Unusual Presentation of Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion in Miller\u2013Dieker Syndrome","volume":"15","author":"Kobayashi","year":"2022","journal-title":"BMJ Case Rep."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/15\/7375\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:19:10Z","timestamp":1760033950000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/15\/7375"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,30]]},"references-count":163,"journal-issue":{"issue":"15","published-online":{"date-parts":[[2025,8]]}},"alternative-id":["ijms26157375"],"URL":"https:\/\/doi.org\/10.3390\/ijms26157375","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,30]]}}}