 Malformations of Cortical Development
"Malformations of Cortical Development" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal CELL PROLIFERATION or APOPTOSIS; abnormal neuronal migration; and abnormal establishment of cortical organization via neurite extension, synaptogenesis, or neuronal maturation. As well as mutations effecting these developmental processes directly, there are a variety of inborn metabolic errors, such as PEROXISOMAL DISORDERS and mitochondrial and pyruvate metabolic disorders which effect them secondarily and also exhibit these malformations. They are common causes of EPILEPSY and developmental delay and are often a component of multiple congenital anomalies.
| Descriptor ID |
D054220
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| MeSH Number(s) |
C10.500.507 C16.131.666.507
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| Concept/Terms |
Malformations of Cortical Development- Malformations of Cortical Development
- Cortical Development Malformation
- Cortical Development Malformations
- Development Malformation, Cortical
- Development Malformations, Cortical
- Malformations of Cerebral Cortex Development
Cortical Dysplasia- Cortical Dysplasia
- Cortical Dysplasias
- Dysplasia, Cortical
- Dysplasias, Cortical
- Cortical Dysplasia, Cerebral
- Cerebral Cortical Dysplasias
- Cortical Dysplasias, Cerebral
- Dysplasia, Cerebral Cortical
- Dysplasias, Cerebral Cortical
- Cerebral Cortical Dysplasia
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Below are MeSH descriptors whose meaning is more general than "Malformations of Cortical Development".
Below are MeSH descriptors whose meaning is more specific than "Malformations of Cortical Development".
This graph shows the total number of publications written about "Malformations of Cortical Development" by people in this website by year, and whether "Malformations of Cortical Development" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
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| 2007 | 1 | 0 | 1 | | 2008 | 4 | 1 | 5 | | 2009 | 1 | 0 | 1 | | 2010 | 3 | 0 | 3 | | 2011 | 2 | 0 | 2 | | 2012 | 3 | 1 | 4 | | 2013 | 2 | 0 | 2 | | 2014 | 3 | 1 | 4 | | 2015 | 5 | 0 | 5 | | 2016 | 3 | 0 | 3 | | 2017 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 | | 2019 | 1 | 1 | 2 | | 2020 | 2 | 0 | 2 | | 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Malformations of Cortical Development" by people in Profiles.
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Pirozzi F, Berkseth M, Shear R, Gonzalez L, Timms AE, Sulc J, Pao E, Oyama N, Forzano F, Conti V, Guerrini R, Doherty ES, Saitta SC, Lockwood CM, Pritchard CC, Dobyns WB, Novotny E, Wright JNN, Saneto RP, Friedman S, Hauptman J, Ojemann J, Kapur RP, Mirzaa GM. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care. Brain. 2022 04 29; 145(3):925-938.
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Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, Valor LM, Zaki MS, Mirzaa G, Dobyns WB, Reiner O, Guerrini R, Pilz DT, Hehr U, Leventer RJ, Jansen AC, Mancini GMS, Di Donato N. International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nat Rev Neurol. 2020 11; 16(11):618-635.
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Andelman-Gur MM, Leventer RJ, Hujirat M, Ganos C, Yosovich K, Carmi N, Lev D, Nissenkorn A, Dobyns WB, Bhatia K, Lerman-Sagie T, Blumkin L. Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome? Am J Med Genet A. 2020 10; 182(10):2207-2213.
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Amrom D, Poduri A, Goldman JS, Dan B, Deconinck N, Pichon B, Nadaf J, Andermann F, Andermann E, Walsh CA, Dobyns WB. Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 2019 12; 179(12):2343-2356.
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Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. Brain. 2019 04 01; 142(4):867-884.
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Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 12 19; 100(6):1354-1368.e5.
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Kurian M, Korff CM, Ranza E, Bernasconi A, Lübbig A, Nangia S, Ramelli GP, Wohlrab G, Nordli DR, Bast T. Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report. Dev Med Child Neurol. 2018 01; 60(1):100-105.
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Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG. Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. Neuromuscul Disord. 2016 11; 26(11):744-748.
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Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845.
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Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J, Guerrini R, Dobyns WB. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016 06 16; 1(9).
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