{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:46:15Z","timestamp":1791477975881,"version":"4.3.4"},"reference-count":143,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T00:00:00Z","timestamp":1712534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked intellectual disability. To date, various X-linked genes responsible for epilepsy syndromes and\/or developmental and epileptic encephalopathies have been recognized. The electro-clinical phenotype is well described for some genes in which epilepsy represents the core symptom, while less phenotypic details have been reported for other recently identified genes. In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19-related DEE, CDKL5-related DEE, MECP2-related disorders), forms of epilepsy related to X-linked neuronal migration disorders (e.g., ARX, DCX, FLNA) and DEEs associated with recently recognized genes (e.g., SLC9A6, SLC35A2, SYN1, ARHGEF9, ATP6AP2, IQSEC2, NEXMIF, PIGA, ALG13, FGF13, GRIA3, SMC1A). It is often difficult to suspect an X-linked mode of transmission in an epilepsy syndrome. Indeed, different models of X-linked inheritance and modifying factors, including epigenetic regulation and X-chromosome inactivation in females, may further complicate genotype\u2013phenotype correlations. The purpose of this work is to provide an extensive and updated narrative review of X-linked epilepsies. This review could support clinicians in the genetic diagnosis and treatment of patients with epilepsy featuring X-linked inheritance.<\/jats:p>","DOI":"10.3390\/ijms25074110","type":"journal-article","created":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T10:11:55Z","timestamp":1712571115000},"page":"4110","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["X-Linked Epilepsies: A Narrative Review"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4150-1624","authenticated-orcid":false,"given":"Pia","family":"Bernardo","sequence":"first","affiliation":[{"name":"Pediatric Psychiatry and Neurology Unit, Department of Neurosciences, Santobono-Pausilipon Children\u2019s Hospital, 80129 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Cuccurullo","sequence":"additional","affiliation":[{"name":"Neurology and Stroke Unit, Ospedale del Mare Hospital, ASL Napoli 1 Centro, 80147 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marica","family":"Rubino","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"De Vita","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0298-0714","authenticated-orcid":false,"given":"Gaetano","family":"Terrone","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Units, Department of Translational Medical Sciences, University Federico II of Naples, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9817-4193","authenticated-orcid":false,"given":"Leonilda","family":"Bilo","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6596-3065","authenticated-orcid":false,"given":"Antonietta","family":"Coppola","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1007\/s12035-013-8589-1","article-title":"Genetics, molecular biology, and phenotypes of X-linked epilepsy","volume":"49","author":"Deng","year":"2014","journal-title":"Mol. Neurobiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.ejmg.2012.01.017","article-title":"Seizures and X-linked intellectual disability","volume":"55","author":"Stevenson","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1055\/s-2001-15398","article-title":"Skewed X inactivation in X-linked disorders","volume":"19","year":"2001","journal-title":"Semin. Reprod. Med."},{"key":"ref_4","unstructured":"Mehta, A., Beck, M., and Sunder-Plassmann, G. (2006). Fabry Disease: Perspectives from 5 Years of FOS, Oxford PharmaGenesis. Chapter 7."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1038\/190372a0","article-title":"Gene action in the X-chromosome of the mouse (Mus musculus L.)","volume":"190","author":"Lyon","year":"1961","journal-title":"Nature"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2111","DOI":"10.1111\/j.1528-1167.2012.03649.x","article-title":"Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy","volume":"53","author":"Marini","year":"2012","journal-title":"Epilepsia"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2260","DOI":"10.1111\/epi.14600","article-title":"Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study","volume":"59","author":"Trivisano","year":"2018","journal-title":"Epilepsia"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.pediatrneurol.2019.10.009","article-title":"PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review","volume":"105","author":"Samanta","year":"2020","journal-title":"Pediatr. Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1111\/epi.17239","article-title":"ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions","volume":"63","author":"Zuberi","year":"2022","journal-title":"Epilepsia"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1111\/j.1469-8749.2010.03889.x","article-title":"CDKL5 gene-related epileptic encephalopathy: Electroclinical findings in the first year of life","volume":"53","author":"Melani","year":"2011","journal-title":"Dev. Med. Child. Neurol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/S1474-4422(22)00077-1","article-title":"Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: Results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial","volume":"21","author":"Knight","year":"2022","journal-title":"Lancet Neurol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.1111\/j.1528-1167.2012.03656.x","article-title":"Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies","volume":"53","author":"Guerrini","year":"2012","journal-title":"Epilepsia"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1212\/WNL.0b013e3181d6b852","article-title":"Epilepsy and the natural history of Rett syndrome","volume":"74","author":"Glaze","year":"2010","journal-title":"Neurology"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1002\/ajmg.a.33184","article-title":"The MECP2 duplication syndrome","volume":"152A","author":"Ramocki","year":"2010","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1111\/j.1528-1167.2012.03501.x","article-title":"Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature","volume":"53","author":"Vignoli","year":"2012","journal-title":"Epilepsia"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/ng1009","article-title":"Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans","volume":"32","author":"Kitamura","year":"2002","journal-title":"Nat. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/humu.10310","article-title":"Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation","volume":"23","author":"Kato","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Noebels, J.L., Avoli, M., Rogawski, M.A., Olsen, R.W., and Delgado-Escueta, A.V. (2012). Developing Models of Aristaless-related homeobox mutations, Jasper\u2019s Basic Mechanisms of the Epilepsies.","DOI":"10.1093\/med\/9780199746545.001.0001"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1002\/jdn.10290","article-title":"X-linked neuronal migration disorders: Gender differences and insights for genetic screening","volume":"83","author":"Edey","year":"2023","journal-title":"Int. J. Dev. Neurosci."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1093\/brain\/aws323","article-title":"SBH-LIS European Consortium. New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum","volume":"136","author":"Souville","year":"2013","journal-title":"Brain"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1111\/j.1399-0004.2009.01206.x","article-title":"Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature","volume":"76","author":"Chou","year":"2009","journal-title":"Clin. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1892","DOI":"10.1093\/brain\/awl125","article-title":"Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin A mutations","volume":"129","author":"Parrini","year":"2006","journal-title":"Brain"},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Cannaerts, E., Shukla, A., Hasanhodzic, M., Alaerts, M., Schepers, D., Van Laer, L., Girisha, K.M., Hojsak, I., Loeys, B., and Verstraeten, A. (2018). FLNA mutations in surviving males presenting with connective tissue findings: Two new case reports and review of the literature. BMC Med. Genet., 19.","DOI":"10.1186\/s12881-018-0655-0"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"2775","DOI":"10.1002\/ajmg.a.33093","article-title":"Natural history of Christianson syndrome","volume":"152A","author":"Schroer","year":"2010","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1007\/s00439-016-1675-5","article-title":"The expanding phenotypic spectrum of female SLC9A6 mutation carriers: A case series and review of the literature","volume":"135","author":"Sinajon","year":"2016","journal-title":"Hum. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.1002\/humu.22446","article-title":"De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy","volume":"34","author":"Kodera","year":"2013","journal-title":"Hum. Mutat."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1002\/ana.25243","article-title":"Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy","volume":"83","author":"Winawer","year":"2018","journal-title":"Ann. Neurol."},{"key":"ref_28","first-page":"908","article-title":"SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals","volume":"40","author":"Ng","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1136\/jmg.2003.013680","article-title":"Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy","volume":"41","author":"Garcia","year":"2004","journal-title":"J. Med. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"43769","DOI":"10.1074\/jbc.M404168200","article-title":"Synapsin is a novel Rab3 effector protein on small synaptic vesicles. II. Functional effects of the Rab3A-synapsin I interaction","volume":"279","author":"Darchen","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1111\/epi.13042","article-title":"X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome","volume":"56","author":"Nguyen","year":"2015","journal-title":"Epilepsia"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1038\/jhg.2011.58","article-title":"Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy","volume":"56","author":"Shimojima","year":"2011","journal-title":"J. Hum. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"e148","DOI":"10.1212\/NXG.0000000000000148","article-title":"ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation","volume":"3","author":"Alber","year":"2017","journal-title":"Neurol. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"e1967","DOI":"10.1002\/mgg3.1967","article-title":"ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration","volume":"10","author":"Yang","year":"2022","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/ana.10051","article-title":"Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4","volume":"51","author":"Hedera","year":"2002","journal-title":"Ann. Neurol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1093\/hmg\/ddi094","article-title":"A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor","volume":"14","author":"Ramser","year":"2005","journal-title":"Hum Mol Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1016\/j.parkreldis.2015.10.001","article-title":"A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism","volume":"21","author":"Gupta","year":"2015","journal-title":"Park. Relat. Disord."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1858","DOI":"10.1111\/epi.13560","article-title":"The molecular and phenotypic spectrum of IQSEC2-related epilepsy","volume":"57","author":"Zerem","year":"2016","journal-title":"Epilepsia"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1089\/gtmb.2019.0177","article-title":"A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family","volume":"24","author":"Choi","year":"2020","journal-title":"Genet. Test Mol. Biomark."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/s41436-020-00988-9","article-title":"NEXMIF encephalopathy: An X-linked disorder with male and female phenotypic patterns","volume":"23","author":"Stamberger","year":"2021","journal-title":"Genet. Med."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Coppola, A., Krithika, S., Iacomino, M., Bobbili, D., Balestrini, S., Bagnasco, I., Bilo, L., Buti, D., Casellato, S., and Cuccurullo, C. (2023). Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing. Epilepsia, ahead of print.","DOI":"10.1111\/epi.17859"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/j.braindev.2016.02.008","article-title":"A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy","volume":"38","author":"Kim","year":"2016","journal-title":"Brain Dev."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1111\/epi.16545","article-title":"Lessons learned from 40 novel PIGA patients and a review of the literature","volume":"61","author":"Bayat","year":"2020","journal-title":"Epilepsia"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.seizure.2023.08.002","article-title":"The efficacy of a medium-chain triglyceride ketogenic diet for drug-resistant epilepsy with PIGA germline variant","volume":"111","author":"Ikeda","year":"2023","journal-title":"Seizure"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1111\/epi.16761","article-title":"The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy","volume":"62","author":"Datta","year":"2021","journal-title":"Epilepsia"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1111\/epi.16817","article-title":"Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation?","volume":"62","author":"Berry","year":"2021","journal-title":"Epilepsia"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.ajhg.2020.10.017","article-title":"Missense variants in the N-terminal domain of the A isoform of FHF2\/FGF13 cause an X-linked developmental and epileptic encephalopathy","volume":"108","author":"Fry","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"104403","DOI":"10.1016\/j.ejmg.2021.104403","article-title":"Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90","volume":"65","author":"Narayanan","year":"2022","journal-title":"Eur. J. Med. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.seizure.2020.08.032","article-title":"GRIA3 missense mutation is cause of an X-linked developmental and epileptic encephalopathy","volume":"82","author":"Trivisano","year":"2020","journal-title":"Seizure"},{"key":"ref_50","doi-asserted-by":"crossref","unstructured":"Sun, J.H., Chen, J., Valenzuela, F.E.A., Brown, C., Masser-Frye, D., Jones, M., Romero, L.P., Rinaldi, B., Li, W.L., and Li, Q.Q. (2021). X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3. PLoS Genet., 17.","DOI":"10.1371\/journal.pgen.1009608"},{"key":"ref_51","doi-asserted-by":"crossref","unstructured":"Selicorni, A., Mariani, M., Lettieri, A., and Massa, V. (2021). Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum. Genes, 12.","DOI":"10.3390\/genes12071075"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1111\/epi.13669","article-title":"Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases","volume":"58","author":"Symonds","year":"2017","journal-title":"Epilepsia"},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Bozarth, X.L., Lopez, J., Fang, H., Lee-Eng, J., Duan, Z., and Deng, X. (2023). Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy. Genes, 14.","DOI":"10.3390\/genes14040852"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/ng.149","article-title":"X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment","volume":"40","author":"Dibbens","year":"2008","journal-title":"Nat. Genet."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1002\/ajmg.a.37617","article-title":"PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant","volume":"170","author":"Thiffault","year":"2016","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"e51","DOI":"10.1111\/epi.13295","article-title":"PCDH19-related epilepsy in two mosaic male patients","volume":"57","author":"Terracciano","year":"2016","journal-title":"Epilepsia"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1684\/epd.2018.1009","article-title":"Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation","volume":"20","author":"Chemaly","year":"2018","journal-title":"Epileptic Disord."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/s41380-018-0066-9","article-title":"A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity","volume":"24","author":"Kolc","year":"2019","journal-title":"Mol. Psychiatry"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s10048-013-0353-1","article-title":"Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders","volume":"14","author":"Weckhuysen","year":"2013","journal-title":"Neurogenetics"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1111\/dmcn.13595","article-title":"Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: Case report","volume":"60","author":"Kurian","year":"2018","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.seizure.2016.01.006","article-title":"Effectiveness of antiepileptic therapy in patients with PCDH19 mutations","volume":"35","author":"Lotte","year":"2016","journal-title":"Seizure"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.seizure.2015.02.006","article-title":"Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy","volume":"27","author":"Higurashi","year":"2015","journal-title":"Seizure"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.ejpn.2019.12.020","article-title":"Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy","volume":"24","author":"Sadleir","year":"2020","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1111\/epi.17530","article-title":"Perampanel as precision therapy in rare genetic epilepsies","volume":"64","author":"Nissenkorn","year":"2023","journal-title":"Epilepsia"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1016\/j.seizure.2011.06.009","article-title":"Long-term follow-up of the ketogenic diet for refractory epilepsy: Multicenter Argentinean experience in 216 pediatric patients","volume":"20","author":"Caraballo","year":"2011","journal-title":"Seizure"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.seizure.2016.07.006","article-title":"Ketogenic diet treatment for pediatric super-refractory status epilepticus","volume":"41","author":"Appavu","year":"2016","journal-title":"Seizure"},{"key":"ref_67","first-page":"e27154","article-title":"Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome","volume":"14","author":"Moncayo","year":"2022","journal-title":"Cureus"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1086\/375538","article-title":"Disruption of the serine\/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation","volume":"72","author":"Kalscheuer","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1086\/426460","article-title":"Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5\/STK9) gene are associated with severe neurodevelopmental retardation","volume":"75","author":"Tao","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1086\/426462","article-title":"Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation","volume":"75","author":"Weaving","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1136\/jmg.2004.026237","article-title":"CDKL5\/STK9 is mutated in Rett syndrome variant with infantile spasms","volume":"42","author":"Scala","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"2647","DOI":"10.1093\/brain\/awn197","article-title":"Key clinical features to identify girls with CDKL5 mutations","volume":"131","author":"Nectoux","year":"2008","journal-title":"Brain"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1375\/twin.13.2.168","article-title":"Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders","volume":"13","author":"White","year":"2010","journal-title":"Twin Res. Hum. Genet."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.pediatrneurol.2019.02.015","article-title":"Cyclin-Dependent Kinase-like 5 Deficiency Disorder: Clinical Review","volume":"97","author":"Olson","year":"2019","journal-title":"Pediatr. Neurol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"1935","DOI":"10.1093\/hmg\/ddi198","article-title":"CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome","volume":"14","author":"Mari","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_76","first-page":"364","article-title":"Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes","volume":"143","author":"Jansen","year":"2007","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1002\/ajmg.a.32606","article-title":"A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome","volume":"149A","author":"Sartori","year":"2009","journal-title":"Am. J. Med. Genet. Part A."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1136\/jmg.2006.041467","article-title":"CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients","volume":"43","author":"Archer","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.clinph.2005.09.008","article-title":"Myoclonic encephalopathy in the CDKL5 gene mutation","volume":"117","author":"Buoni","year":"2006","journal-title":"Clin. Neurophysiol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1038\/ejhg.2012.156","article-title":"The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy","volume":"21","author":"Fehr","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.yebeh.2018.05.013","article-title":"Open-label use of highly purified CBD (Epidiolex\u00ae) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes","volume":"86","author":"Devinsky","year":"2018","journal-title":"Epilepsy Behav."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"108152","DOI":"10.1016\/j.yebeh.2021.108152","article-title":"The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder","volume":"122","author":"Dale","year":"2021","journal-title":"Epilepsy Behav."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"e98","DOI":"10.1111\/epi.16923","article-title":"Effect of fenfluramine on convulsive seizures in CDKL5 deficiency disorder","volume":"62","author":"Devinsky","year":"2021","journal-title":"Epilepsia"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1111\/epi.13813","article-title":"Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients","volume":"58","author":"Lim","year":"2017","journal-title":"Epilepsia"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.eplepsyres.2018.07.013","article-title":"Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder","volume":"146","author":"Lim","year":"2018","journal-title":"Epilepsy Res."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1684\/epd.2019.1071","article-title":"Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy","volume":"21","author":"Bernardo","year":"2019","journal-title":"Epileptic Disord."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1520","DOI":"10.1086\/302690","article-title":"Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots","volume":"65","author":"Wan","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1212\/01.wnl.0000223318.28938.45","article-title":"Early progressive encephalopathy in boys and MECP2 mutations","volume":"67","author":"Kankirawatana","year":"2006","journal-title":"Neurology"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"1968","DOI":"10.1212\/01.WNL.0000144350.97844.94","article-title":"Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation","volume":"63","author":"Leuzzi","year":"2004","journal-title":"Neurology"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1176\/appi.ajp.159.1.148-a","article-title":"MECP2 mutation in a boy with language disorder and schizophrenia","volume":"159","author":"Cohen","year":"2002","journal-title":"Am. J. Psychiatry"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1034\/j.1399-0004.2002.610507.x","article-title":"De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia","volume":"61","author":"Kleefstra","year":"2002","journal-title":"Clin. Genet."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1002\/ajmg.a.36416","article-title":"If not Angelman, what is it? A review of Angelman-like syndromes","volume":"164A","author":"Tan","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: Revised diagnostic criteria and nomenclature","volume":"68","author":"Neul","year":"2010","journal-title":"Ann. Neurol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1002\/ana.25712","article-title":"Neurophysiological Signatures of Motor Impairment in Patients with Rett Syndrome","volume":"87","author":"Bernardo","year":"2020","journal-title":"Ann. Neurol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"3951","DOI":"10.1002\/cne.24315","article-title":"Structural and functional differences in the barrel cortex of Mecp2 null mice","volume":"525","author":"Lee","year":"2017","journal-title":"J. Comp. Neurol."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.ajhg.2008.05.015","article-title":"FOXG1 is responsible for the congenital variant of Rett syndrome","volume":"83","author":"Ariani","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.yebeh.2010.06.051","article-title":"Epilepsy in Rett syndrome: Clinical and genetic features","volume":"19","author":"Pintaudi","year":"2010","journal-title":"Epilepsy Behav."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1111\/j.1528-1167.2010.02597.x","article-title":"Epilepsy in Rett syndrome\u2014The experience of a National Rett Center","volume":"51","author":"Nissenkorn","year":"2010","journal-title":"Epilepsia"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1111\/epi.12941","article-title":"Epilepsy in Rett syndrome\u2014Lessons from the Rett networked database","volume":"56","author":"Nissenkorn","year":"2015","journal-title":"Epilepsia"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"391","DOI":"10.23736\/S0026-4946.19.05309-X","article-title":"Epilepsy in Rett Syndrome: Can seizures play an encephalopathic effect in this disorder?","volume":"71","author":"Bernardo","year":"2019","journal-title":"Minerva Pediatr."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1002\/ana.410430410","article-title":"Cortical reflex myoclonus in Rett syndrome","volume":"43","author":"Guerrini","year":"1998","journal-title":"Ann. Neurol."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1159\/000337637","article-title":"Rett Syndrome","volume":"2","author":"Smeets","year":"2012","journal-title":"Mol. Syndromol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1017\/S0012162206000843","article-title":"Aggravation of epilepsy by anti-epileptic drugs","volume":"48","author":"Gayatri","year":"2006","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1111\/apa.14576","article-title":"Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders","volume":"108","author":"Cappuccio","year":"2019","journal-title":"Acta Paediatr."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/s40120-018-0125-9","article-title":"The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications","volume":"8","author":"Bernardo","year":"2019","journal-title":"Neurol. Ther."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/ajmg.b.32707","article-title":"The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2","volume":"180","author":"Neul","year":"2019","journal-title":"Am. J. Med. Genet. Part B Neuropsychiatr. Genet."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/S1474-4422(20)30217-9","article-title":"Advances in understanding of Rett syndrome and MECP2 duplication syndrome: Prospects for future therapies","volume":"19","author":"Sandweiss","year":"2020","journal-title":"Lancet Neurol."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1055\/s-2001-16620","article-title":"Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene","volume":"32","author":"Schwartzman","year":"2001","journal-title":"Neuropediatrics"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/s13039-022-00588-z","article-title":"Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: A cohort study and an extension of the hypothesis","volume":"15","author":"Vorsanova","year":"2022","journal-title":"Mol. Cytogenet."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/s13073-017-0411-7","article-title":"MeCP2 mutations: Progress towards understanding and treating Rett syndrome","volume":"9","author":"Shah","year":"2017","journal-title":"Genome Med."},{"key":"ref_111","doi-asserted-by":"crossref","unstructured":"Kyle, S.M., Vashi, N., and Justice, M.J. (2018). Rett syndrome: A neurological disorder with metabolic components. Open Biol., 8.","DOI":"10.1098\/rsob.170216"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.pediatrneurol.2009.03.012","article-title":"Neurologic aspects of MECP2 gene duplication in male patients","volume":"41","author":"Echenne","year":"2009","journal-title":"Pediatr. Neurol."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"e108","DOI":"10.1212\/WNL.0000000000006742","article-title":"Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome","volume":"92","author":"Marafi","year":"2019","journal-title":"Neurology"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.gene.2013.10.001","article-title":"De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay","volume":"533","author":"Lin","year":"2014","journal-title":"Gene"},{"key":"ref_115","doi-asserted-by":"crossref","unstructured":"Hanchard, N.A., Carvalho, C.M., Bader, P., Thome, A., Omo-Griffith, L., del Gaudio, D., Pehlivan, D., Fang, P., Schaaf, C.P., and Ramocki, M.B. (2012). A partial MECP2 duplication in a mildly affected adult male: A putative role for the 3\u2032 untranslated region in the MECP2 duplication phenotype. BMC Med. Genet., 13.","DOI":"10.1186\/1471-2350-13-71"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/j.braindev.2012.07.010","article-title":"MECP2 duplication syndrome in both genders","volume":"35","author":"Shimada","year":"2013","journal-title":"Brain Dev."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1111\/j.1399-0004.2009.01363.x","article-title":"An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient","volume":"77","author":"Auber","year":"2010","journal-title":"Clin. Genet."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1111\/cge.12898","article-title":"Xq28 duplication including MECP2 in six unreported affected females: What can we learn for diagnosis and genetic counselling?","volume":"91","author":"Touraine","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1111\/cge.13521","article-title":"Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome","volume":"95","author":"Peters","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/ejhg.2008.192","article-title":"Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance","volume":"17","author":"Walters","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1093\/brain\/aws019","article-title":"A developmental and genetic classification for malformations of cortical development: Update 2012","volume":"135","author":"Barkovich","year":"2012","journal-title":"Brain"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"1884","DOI":"10.1093\/hmg\/ddac028","article-title":"Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy","volume":"31","author":"Drongitis","year":"2022","journal-title":"Hum. Mol. Genet."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<331::AID-AJMG7>3.0.CO;2-P","article-title":"X-linked lissencephaly with absent corpus callosum and ambiguous genitalia","volume":"86","author":"Dobyns","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1002\/humu.23190","article-title":"An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX","volume":"38","author":"Mattiske","year":"2017","journal-title":"Hum. Mutat."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"1639","DOI":"10.1093\/hmg\/ddr601","article-title":"ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression","volume":"21","author":"Shoubridge","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s10048-011-0304-7","article-title":"Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations","volume":"13","author":"Cho","year":"2012","journal-title":"Neurogenetics"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1002\/humu.21288","article-title":"ARX spectrum disorders: Making inroads into the molecular pathology","volume":"31","author":"Shoubridge","year":"2010","journal-title":"Hum. Mutat."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"250","DOI":"10.3389\/fnins.2019.00250","article-title":"Why Malformations of Cortical Development Cause Epilepsy","volume":"13","author":"Represa","year":"2019","journal-title":"Front. Neurosci."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1038\/sj.ejhg.5200548","article-title":"Mutation analysis of the DCX gene and genotype\/phenotype correlation in subcortical band heterotopia","volume":"9","author":"Matsumoto","year":"2001","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"2507","DOI":"10.1093\/brain\/awf248","article-title":"Subcortical band heterotopia (SBH) in males: Clinical, imaging and genetic findings in comparison with females","volume":"125","author":"Bernasconi","year":"2002","journal-title":"Brain"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/S0896-6273(00)80778-3","article-title":"Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons","volume":"23","author":"Gleeson","year":"1999","journal-title":"Neuron"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"a022392","DOI":"10.1101\/cshperspect.a022392","article-title":"Malformations of cortical development and epilepsy","volume":"5","author":"Barkovich","year":"2015","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s13041-015-0164-4","article-title":"Genes and brain malformations associated with abnormal neuron positioning","volume":"8","author":"Moffat","year":"2015","journal-title":"Mol. Brain"},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1093\/hmg\/ddr531","article-title":"A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A","volume":"21","author":"Carabalona","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.bj.2021.05.003","article-title":"The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia","volume":"45","author":"Lu","year":"2022","journal-title":"Biomed. J."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1093\/hmg\/ddl035","article-title":"SRPX2 mutations in disorders of language cortex and cognition","volume":"15","author":"Roll","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"6951","DOI":"10.1074\/jbc.273.12.6951","article-title":"Identification of a mitochondrial Na+\/H+ exchanger","volume":"273","author":"Numata","year":"1998","journal-title":"J. Biol. Chem."},{"key":"ref_138","doi-asserted-by":"crossref","unstructured":"Kerner-Rossi, M., Gulinello, M., Walkley, S., and Dobrenis, K. (2019). Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments. Neurobiol. Learn. Mem., 165.","DOI":"10.1016\/j.nlm.2018.05.004"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1016\/j.ajhg.2008.01.013","article-title":"SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome","volume":"82","author":"Gilfillan","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.neures.2007.10.013","article-title":"IQ-ArfGEF\/BRAG1 is a guanine nucleotide exchange factor for Arf6 that interacts with PSD-95 at postsynaptic density of excitatory synapses","volume":"60","author":"Sakagami","year":"2008","journal-title":"Neurosci. Res."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"722664","DOI":"10.3389\/fneur.2021.722664","article-title":"Cortical and Subcortical Network Dysfunction in a Female Patient with NEXMIF Encephalopathy","volume":"12","author":"Cioclu","year":"2021","journal-title":"Front. Neurol."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1093\/emboj\/17.4.877","article-title":"The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1","volume":"17","author":"Watanabe","year":"1998","journal-title":"EMBO J."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"8866","DOI":"10.1523\/JNEUROSCI.3470-14.2015","article-title":"Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus","volume":"35","author":"Puranam","year":"2015","journal-title":"J. Neurosci."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/7\/4110\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:24:44Z","timestamp":1760106284000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/7\/4110"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,8]]},"references-count":143,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2024,4]]}},"alternative-id":["ijms25074110"],"URL":"https:\/\/doi.org\/10.3390\/ijms25074110","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,8]]}}}