{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T20:26:22Z","timestamp":1761164782195,"version":"build-2065373602"},"reference-count":56,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T00:00:00Z","timestamp":1646092800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T00:00:00Z","timestamp":1646092800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","ejpn-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2022,3]]},"DOI":"10.1016\/j.ejpn.2021.08.006","type":"journal-article","created":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T12:27:18Z","timestamp":1630412838000},"page":"155-164","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review"],"prefix":"10.1016","volume":"37","author":[{"given":"Ellen","family":"Rijckmans","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrien","family":"Stouffs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna C.","family":"Jansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefanie","family":"Brock","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2021.08.006_bib1","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1093\/brain\/aws019","article-title":"A\u00a0developmental and genetic classification for malformations of cortical development: update 2012","volume":"135","author":"Barkovich","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.ejpn.2021.08.006_bib2","doi-asserted-by":"crossref","first-page":"2874","DOI":"10.1093\/brain\/awaa174","article-title":"Definitions and classification of malformations of cortical development: practical guidelines","volume":"143","author":"Severino","year":"2020","journal-title":"Brain"},{"key":"10.1016\/j.ejpn.2021.08.006_bib3","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/j.tig.2019.08.006","article-title":"Toward clinical implementation of next-generation sequencing-based genetic testing in rare diseases: where are We?","volume":"35","author":"Liu","year":"2019","journal-title":"Trends Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib4","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1038\/s41582-020-0395-6","article-title":"International consensus recommendations on the diagnostic work-up for malformations of cortical development","volume":"16","author":"Oegema","year":"2020","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.ejpn.2021.08.006_bib5","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/S0022-3476(83)80183-8","article-title":"Miller-Dieker syndrome: lissencephaly and monosomy 17p","volume":"102","author":"Dobyns","year":"1983","journal-title":"J.\u00a0Pediatr."},{"key":"10.1016\/j.ejpn.2021.08.006_bib6","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1002\/ajmg.a.32293","article-title":"Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27 and 21q2","volume":"146A","author":"Dobyns","year":"2008","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib7","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1159\/000274491","article-title":"Periventricular heterotopia in common microdeletion syndromes","volume":"1","author":"van Kogelenberg","year":"2010","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.ejpn.2021.08.006_bib8","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.ejmg.2018.07.011","article-title":"Neuro-MIG Network (COST Action CA16118). Neuro-MIG: a European network on brain malformations","volume":"61","author":"Mancini","year":"2018","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib9","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1001\/archneur.65.3.358","article-title":"Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification","volume":"65","author":"de Wit","year":"2008","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ejpn.2021.08.006_bib10","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1038\/gim.2018.8","article-title":"Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly","volume":"20","author":"Di Donato","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejpn.2021.08.006_bib11","doi-asserted-by":"crossref","DOI":"10.1093\/braincomms\/fcaa221","article-title":"Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing","volume":"3","author":"Stutterd","year":"2021","journal-title":"Brain Commun."},{"key":"10.1016\/j.ejpn.2021.08.006_bib12","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1212\/01.CPJ.0000410052.07169.b7","article-title":"The evaluation of polyneuropathies","volume":"1","year":"2011","journal-title":"Neurol. Clin. Pract."},{"key":"10.1016\/j.ejpn.2021.08.006_bib13","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1017\/cjn.2019.35","article-title":"Infantile-onset multisystem neurologic, endocrine, and pancreatic disease: case and review","volume":"46","author":"Le","year":"2019","journal-title":"Can. J. Neurol. Sci."},{"key":"10.1016\/j.ejpn.2021.08.006_bib14","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1002\/acn3.149","article-title":"Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness","volume":"1","author":"Hu","year":"2014","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.ejpn.2021.08.006_bib15","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.mad.2016.04.009","article-title":"Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease","volume":"161","author":"Dumitrache","year":"2017","journal-title":"Mech. Ageing Dev."},{"key":"10.1016\/j.ejpn.2021.08.006_bib16","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/ng.526","article-title":"Mutations in PNKP cause microcephaly, seizures and defects in DNA repair","volume":"42","author":"Shen","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib17","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.ajhg.2015.01.005","article-title":"Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4","volume":"96","author":"Bras","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib18","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1007\/s10048-018-0555-7","article-title":"The polynucleotide kinase 3\u2019-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25","volume":"19","author":"Leal","year":"2018","journal-title":"Neurogenetics"},{"key":"10.1016\/j.ejpn.2021.08.006_bib19","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/ng.2254","article-title":"Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration","volume":"44","author":"Wan","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib20","doi-asserted-by":"crossref","first-page":"8","DOI":"10.5582\/irdr.3.8","article-title":"Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors","volume":"3","author":"Fabre","year":"2014","journal-title":"Intractable Rare Dis. Res."},{"key":"10.1016\/j.ejpn.2021.08.006_bib21","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.mito.2017.06.007","article-title":"Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia","volume":"37","author":"Schottmann","year":"2017","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ejpn.2021.08.006_bib22","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-018-0826-2","article-title":"What's new in pontocerebellar hypoplasia? An update on genes and subtypes","volume":"13","author":"van Dijk","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ejpn.2021.08.006_bib23","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-019-49821-7","article-title":"VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes","volume":"9","author":"Mart\u00edn-Doncel","year":"2019","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ejpn.2021.08.006_bib24","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.arr.2016.08.002","article-title":"Cockayne syndrome: clinical features, model systems and pathways","volume":"33","author":"Karikkineth","year":"2017","journal-title":"Ageing Res. Rev."},{"key":"10.1016\/j.ejpn.2021.08.006_bib25","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1111\/j.1399-0004.2010.01424.x","article-title":"ERCC6 founder mutation identified in Finnish patients with COFS syndrome","volume":"78","author":"Jaakkola","year":"2010","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib26","doi-asserted-by":"crossref","first-page":"3516","DOI":"10.1093\/hmg\/ddaa237","article-title":"NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity","volume":"29","author":"Nistala","year":"2021","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib27","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1002\/ajmg.a.36873","article-title":"Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy","volume":"167","author":"Dafsari","year":"2015","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib28","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.amjmed.2017.10.016","article-title":"An approach to myopathy for the primary care clinician","volume":"131","author":"Domingo-Horne","year":"2018","journal-title":"Am. J. Med."},{"key":"10.1016\/j.ejpn.2021.08.006_bib29","doi-asserted-by":"crossref","DOI":"10.1038\/srep30610","article-title":"The spectrum of mitochondrial ultrastructural defects in mitochondrial myopathy","volume":"6","author":"Vincent","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ejpn.2021.08.006_bib30","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1093\/brain\/awv393","article-title":"EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy","volume":"139","author":"Byrne","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.ejpn.2021.08.006_bib31","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/j.nmd.2017.05.005","article-title":"Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature","volume":"27","author":"Hedberg-Oldfors","year":"2017","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ejpn.2021.08.006_bib32","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.ajhg.2020.06.013","article-title":"De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism","volume":"107","author":"Guillen Sacoto","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib33","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1136\/jmedgenet-2014-102964","article-title":"A\u00a0novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B","volume":"52","author":"Alazami","year":"2015","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib34","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1097\/MCD.0000000000000301","article-title":"Klippel-Feil syndrome: a review of the literature","volume":"29","author":"Frikha","year":"2020","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejpn.2021.08.006_bib35","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.1016\/S0140-6736(19)32910-1","article-title":"Muscular dystrophies","volume":"394","author":"Mercuri","year":"2019","journal-title":"Lancet"},{"key":"10.1016\/j.ejpn.2021.08.006_bib36","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/ana.21482","article-title":"Brain involvement in muscular dystrophies with defective dystroglycan glycosylation","volume":"64","author":"Clement","year":"2008","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ejpn.2021.08.006_bib37","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1093\/brain\/awr357","article-title":"Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies","volume":"135","author":"Devisme","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.ejpn.2021.08.006_bib38","doi-asserted-by":"crossref","first-page":"9906","DOI":"10.1038\/s41598-017-09972-x","article-title":"Retrograde trafficking of \u03b2-dystroglycan from the plasma membrane to the nucleus","volume":"7","author":"Gracida-Jim\u00e9nez","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ejpn.2021.08.006_bib39","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.braindev.2007.05.012","article-title":"Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy","volume":"30","author":"Yoshioka","year":"2008","journal-title":"Brain Dev."},{"key":"10.1016\/j.ejpn.2021.08.006_bib40","doi-asserted-by":"crossref","first-page":"e1187","DOI":"10.1542\/peds.2005-2469","article-title":"Cardiac involvement in Fukuyama-type congenital muscular dystrophy","volume":"117","author":"Nakanishi","year":"2006","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejpn.2021.08.006_bib41","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1111\/j.1399-0004.2004.00368.x","article-title":"Glyc-O-genetics of Walker-Warburg syndrome","volume":"67","author":"van Reeuwijk","year":"2005","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib42","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.nmd.2010.08.007","article-title":"Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype","volume":"21","author":"Yis","year":"2011","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ejpn.2021.08.006_bib43","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1016\/j.ajhg.2012.10.009","article-title":"Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly","volume":"91","author":"Vuillaumier-Barrot","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib44","series-title":"GeneReviews\u00ae","article-title":"LAMA2 muscular dystrophy","author":"Oliveira","year":"1993"},{"key":"10.1016\/j.ejpn.2021.08.006_bib45","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/j.ajhg.2017.01.019","article-title":"Mutations in INPP5K cause a form of congenital muscular dystrophy overlapping marinesco-sj\u00f6gren syndrome and dystroglycanopathy","volume":"100","author":"Osborn","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib46","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/B978-0-444-64076-5.00041-7","article-title":"Hereditary spastic paraplegia","volume":"148","author":"Blackstone","year":"2018","journal-title":"Handb. Clin. Neurol."},{"key":"10.1016\/j.ejpn.2021.08.006_bib47","first-page":"2929","article-title":"Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia","volume":"143","author":"Ebrahimi-Fakhari","year":"2020","journal-title":"Brain"},{"key":"10.1016\/j.ejpn.2021.08.006_bib48","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-017-12999-9","article-title":"Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene","volume":"7","author":"Cheon","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ejpn.2021.08.006_bib49","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1186\/s12881-019-0851-6","article-title":"Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia","volume":"20","author":"Wakil","year":"2019","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib50","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1002\/humu.23250","article-title":"Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy","volume":"38","author":"Nakayama","year":"2017","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejpn.2021.08.006_bib51","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000223","article-title":"ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia","volume":"4","author":"Bouwkamp","year":"2018","journal-title":"Neurol. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib52","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/j.ejmg.2018.10.004","article-title":"Further refinement of COL4A1 and COL4A2 related cortical malformations","volume":"61","author":"Cavallin","year":"2018","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejpn.2021.08.006_bib53","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/B978-0-444-64029-1.00022-9","article-title":"Inborn errors of metabolism","volume":"162","author":"Ferreira","year":"2019","journal-title":"Handb. Clin. Neurol."},{"key":"10.1016\/j.ejpn.2021.08.006_bib54","doi-asserted-by":"crossref","first-page":"301","DOI":"10.31887\/DCNS.2018.20.4\/jmsaudubray","article-title":"An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders","volume":"20","author":"Saudubray","year":"2018","journal-title":"Dialogues Clin. Neurosci."},{"key":"10.1016\/j.ejpn.2021.08.006_bib55","doi-asserted-by":"crossref","first-page":"2043","DOI":"10.1038\/s41436-019-0464-7","article-title":"Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly","volume":"21","author":"Boonsawat","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejpn.2021.08.006_bib56","doi-asserted-by":"crossref","first-page":"432","DOI":"10.5863\/1551-6776-23.6.432","article-title":"An introduction to pharmacotherapy for inborn errors of metabolism","volume":"23","author":"Harthan","year":"2018","journal-title":"J.\u00a0Pediatr. Pharmacol. Therapeut."}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379821001562?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379821001562?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T18:40:54Z","timestamp":1761072054000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379821001562"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":56,"alternative-id":["S1090379821001562"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2021.08.006","relation":{},"ISSN":["1090-3798"],"issn-type":[{"type":"print","value":"1090-3798"}],"subject":[],"published":{"date-parts":[[2022,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2021.08.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}