{"id":4402,"date":"2020-10-31T13:14:34","date_gmt":"2020-10-31T12:14:34","guid":{"rendered":"https:\/\/encore-expertisecentrum.nl\/?page_id=4402"},"modified":"2020-11-05T10:31:25","modified_gmt":"2020-11-05T09:31:25","slug":"corticale-malformaties","status":"publish","type":"page","link":"https:\/\/encore-expertisecentrum.nl\/en\/publications\/corticale-malformaties\/","title":{"rendered":"Cortical malformation disorders"},"content":{"rendered":"[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=”Pubicaties Corticale malformaties” tab_id=”1588325715276-80d12435-d6f0″][vc_column_text]Bar C, et.al.<\/em> (2020) Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. <\/strong>Epilepsia. <\/em>Pubmed<\/span><\/a><\/p>\n

Ragamin A, et al.<\/em> (2020) Human RAD50 deficiency: Confirmation of a distinctive phenotype.<\/strong> Am J Med Genet A.<\/em> 1-9. Pubmed<\/span><\/a><\/p>\n

Severino M, et.al. <\/em>(2020) Definitions and classification of malformations of cortical development: practical guidelines. <\/strong>Brain. <\/em>143(10); 2874-94. Pubmed<\/span><\/a><\/p>\n

Oegema R, et.al.<\/em> (2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. <\/strong>Nat Rev Neurol.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Brock S, et.al.<\/em> (2020) Defining<\/strong> the Phenotypical Spectrum Associated with Variants in TUBB2A. <\/strong>J Med Genet.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Vandervore LV, et.al.<\/em> (2019) TMX2 is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.<\/strong> Am J Hum Genet.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Lee S, et.al.<\/em> (2019) Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia and Global Developmental Delay.<\/strong> Am J Hum Genet.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Oegema R, et.al.<\/em> (2019) EML1-associated Brain Overgrowth Syndrome with Ribbon-like Heterotopia.<\/strong> Am J Med Genet C Semin Med Genet.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Magini P, et.al.<\/em> (2019) Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.<\/strong> Am J Hum Genet.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Oegema R, et.al.<\/em> (2019) Subcortical Heterotopic Gray Matter Brain Malformations: Classification Study of 107 Individuals.<\/strong> Neurology<\/em>. Pubmed<\/span><\/a><\/p>\n

Uzguiano A, et.al. <\/em>(2019) Mutations in the Heterotopia Gene Eml1\/EML1 Severely Disrupt the Formation of Primary Cilia.<\/strong> Cell Rep.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Vandervore LV, et.al.<\/em> (2019) Heterogeneous Clinical Phenotypes and Cerebral Malformations Reflected by Rotatin Cellular Dynamics.<\/strong> Brain.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Dobyns WB, et.al. <\/em>(2018) MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.<\/strong> Am J Hum Genet.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Vandervore LV, et.al.<\/em> (2018) Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.<\/strong> Eur J Med Genet.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Smith RS, et.al. <\/em>(2018) Sodium Channel SCN3A (Nav\u00ad<\/sub>1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.<\/strong> Neuron<\/em>. Pubmed<\/span><\/a><\/p>\n

Reijnders MRF, et.al. <\/em>(2017) RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. <\/strong>Am J Hum Genet. <\/em>101(3); 466-77. Pubmed<\/span><\/a><\/p>\n

Reijnders MRF, et.al. <\/em>(2017) Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. <\/strong>Nat. Commun. <\/em>8(1); 1052. Pubmed<\/span><\/a><\/p>\n

De Mori R, et.al. <\/em>(2017) Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranoi-facial and Skeletal Defects. <\/strong>Am J Hum Genet. <\/em>101(4); 552-63. Pubmed<\/span><\/a><\/p>\n

Oegema R, et.al.<\/em> (2017) Human mutations in integrator complex subunits link transcriptome integrity to brain development. <\/strong>PLoS Genet. <\/em>13(5); e1006809. Pubmed<\/span><\/a><\/p>\n

Meuwissen ME, et.al.<\/em> (2016) Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. <\/strong>J Exp Med. <\/em>213(7); 1163-74. Pubmed<\/span><\/a><\/p>\n

Mancini GM, et.al. <\/em>(2016) CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia. <\/strong>Neurology. <\/em>86(9); 877-8. Pubmed<\/span><\/a><\/p>\n

Yilmaz S, et.al. <\/em>(2015) The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder. <\/strong>Brain Dev. <\/em>38(1); 124-7. Pubmed<\/span><\/a><\/p>\n

Nellist M, et.al. <\/em>(2015) Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. <\/strong>Mol Genet Metab. <\/em>114(3); 467-73. Pubmed<\/span><\/a><\/p>\n

Kielar M, et.al. <\/em>(2014) Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. <\/strong>Nat Neurosci. <\/em>17(7); 923-33. Pubmed<\/span><\/a><\/p>\n

Poulton CJ, et.al. <\/em>(2014) Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?<\/strong> Am J Med Genet A. <\/em>164A(9); 2161-71. Pubmed<\/span><\/a><\/p>\n

Mirzaa G, et.al. <\/em>(2014) De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. <\/strong>Nat Genet. <\/em>46(5); 510-5 Pubmed<\/span><\/a><\/p>\n

Oegema, R. et al.<\/em> (2013) Novel no-stop FLNA mutation causes multi-organ involvement in males.<\/strong> Am J Med Genet A<\/em> 161, 2376\u20132384. Pubmed<\/span><\/a><\/p>\n

Oegema, R. et al.<\/em> (2013) A single strand that links multiple neuropathologies in human disease.<\/strong> Brain<\/em>.\u00a0Pubmed<\/a><\/p>\n

Meuwissen, M.E.C. et al.<\/em> (2013) ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.<\/strong> Am J Med Genet A<\/em> 161, 1376\u20131380. Pubmed<\/span><\/a><\/p>\n

Poulton, C. et al.<\/em> (2013) Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.<\/strong> Neurogenetics<\/em> 14, 43\u201351. Pubmed<\/span><\/a><\/p>\n

Kheradmand Kia, S. et al.<\/em> (2012) RTTN mutations link primary cilia function to organization of the human cerebral cortex.<\/strong> Am J Hum Genet<\/em> 91, 533\u2013540. Pubmed<\/span><\/a><\/p>\n

Verbeek, E. et al.<\/em> (2012) COL4A2 mutation associated with familial porencephaly and small-vessel disease. <\/strong>Eur J Hum Genet<\/em> 20, 844\u2013851. Pubmed<\/span><\/a><\/p>\n

Oegema, R. et al.<\/em> (2012) Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.<\/strong> Am J Med Genet A<\/em> 158, 1472\u20131476. Pubmed<\/span><\/a><\/p>\n

Poulton, C.J. et al.<\/em> (2011) Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. <\/strong>Am J Hum Genet<\/em> 89, 265\u2013276. Pubmed<\/span><\/a><\/p>\n

de Wit, M.C.Y. et al.<\/em> (2011) Lung disease in FLNA mutation: confirmatory report.<\/strong> Eur J Med Genet<\/em> 54, 299\u2013300. Pubmed<\/span><\/a><\/p>\n

de Wit, M.C.Y. et al.<\/em> (2011) Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities.<\/strong> Dev Med Child Neurol <\/em>53, 417\u2013421. Pubmed<\/span><\/a><\/p>\n

Meuwissen, M.E.C. et al.<\/em> (2011) Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.<\/strong> Neurology<\/em> 76, 844\u2013846. Pubmed<\/span><\/a><\/p>\n

de Wit, M.C.Y. et al.<\/em> (2011) Combined cardiological and neurological abnormalities due to filamin A gene mutation.<\/strong> Clin Res Cardiol<\/em> 100, 45\u201350. Pubmed<\/span><\/a><\/p>\n

de Wit, M.C.Y. et al.<\/em> (2010) Absence epilepsy and periventricular nodular heterotopia.<\/strong> Seizure <\/em>19, 450\u2013452. Pubmed<\/span><\/a><\/p>\n

Oegema, R. et al.<\/em> (2010) KBG syndrome associated with periventricular nodular heterotopia.<\/strong> Clin. Dysmorphol.<\/em> 19, 164\u2013165. Pubmed<\/span><\/a><\/p>\n

Verkerk, A.J.M.H. et al.<\/em> (2010) Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.<\/strong> Am J Med Genet A<\/em> 152, 1488\u20131497. Pubmed<\/span><\/a><\/p>\n

de Wit, M.-C.Y. et al.<\/em> (2010) Periventricular nodular heterotopia and distal limb deficiency: a recurrent association.<\/strong> Am J Med Genet A<\/em> 152, 954\u2013959. Pubmed<\/span><\/a><\/p>\n

de Wit, M.C.Y. et al.<\/em> (2009) Movement disorder and neuronal migration disorder due to ARFGEF2 mutation. <\/strong>Neurogenetics<\/em> 10, 333\u2013336. Pubmed<\/span><\/a><\/p>\n

de Wit, M.C.Y. et al.<\/em> (2009) Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects. <\/strong>J Neurol Neurosurg Psychiatry<\/em> 80, 426\u2013428. Pubmed<\/span><\/a><\/p>\n

de Wit, M.C.Y. et al.<\/em> (2008) Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification.<\/strong> Arch Neurol<\/em> 65, 358\u2013366. Pubmed<\/span><\/a><\/p>\n

de Wit, M.C.Y. et al.<\/em> (2006) Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.<\/strong> Neurogenetics<\/em> 7, 259\u2013263. Pubmed<\/span><\/a><\/p>\n

Breedveld, G. et al.<\/em> (2006) Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.<\/strong> J Med Genet<\/em> 43, 490\u2013495. Pubmed<\/span><\/a><\/p>\n

de Wit, M.C.Y. et al.<\/em> (2006) Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency. <\/strong>Mol. Genet. Metab.<\/em> 87, 102\u2013106. Pubmed<\/span><\/a><\/p>\n

Brooks, A.S. et al.<\/em> (2005) Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.<\/strong> Am J Hum Genet<\/em> 77, 120\u2013126. Pubmed<\/span><\/a><\/p>\n

Mancini, G.M.S. et al.<\/em> (2004) Hereditary porencephaly: clinical and MRI findings in two Dutch families.<\/strong> Eur J Paediatr Neurol<\/em> 8, 45\u201354.\u00a0Pubmed<\/span><\/a>[\/vc_column_text][\/vc_tta_section][\/vc_tta_accordion][\/vc_column][\/vc_row]","protected":false},"excerpt":{"rendered":"

[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=”Pubicaties Corticale malformaties” tab_id=”1588325715276-80d12435-d6f0″][vc_column_text]Bar C, et.al. (2020) Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. Epilepsia. Pubmed Ragamin A, et al. (2020) Human RAD50 deficiency: Confirmation of a distinctive phenotype. Am J Med Genet A. 1-9. Pubmed Severino M, et.al. (2020) Definitions and classification of malformations of cortical development: practical guidelines. Brain. […]<\/p>","protected":false},"author":1,"featured_media":0,"parent":3957,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4402"}],"collection":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/comments?post=4402"}],"version-history":[{"count":6,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4402\/revisions"}],"predecessor-version":[{"id":4577,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4402\/revisions\/4577"}],"up":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3957"}],"wp:attachment":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/media?parent=4402"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}