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cortical malformation

MedGen UID:
412653
Concept ID:
C2748861
Congenital Abnormality
Synonyms: Cortical malformation; Cortical malformations

Professional guidelines

PubMed

Masnada S, Chiara D, Giana I, Manuela F, Marco S, Andrea A, Patrizia A, Nadia BB, Valeria C, Mara C, Bernardo DB, Francesca D, Valentina G, Elisa F, Miguel FRL, Carlo F, Lucio G, Simona O, Lorenzo P, Erika R, Antonino R, Mariasavina S, Carlotta S, Pierangelo V, Anna P, Andrea R, Cecilia P
Neuropediatrics 2020 Aug;51(4):276-285. Epub 2020 Jul 3 doi: 10.1055/s-0040-1710528. PMID: 32620025
Pal DK, Pong AW, Chung WK
Nat Rev Neurol 2010 Aug;6(8):445-53. Epub 2010 Jul 20 doi: 10.1038/nrneurol.2010.92. PMID: 20647993
Saito Y, Sugai K, Nakagawa E, Sakuma H, Komaki H, Sasaki M, Maegaki Y, Ohno K, Sato N, Kaneko Y, Otsuki T
J Neurol Sci 2009 Feb 15;277(1-2):37-49. Epub 2008 Nov 26 doi: 10.1016/j.jns.2008.10.009. PMID: 19036389

Recent clinical studies

Etiology

Rodrigo Marinowic D, Bottega Pazzin D, Prates da Cunha de Azevedo S, Pinzetta G, Victor Machado de Souza J, Tonon Schneider F, Thor Ramos Previato T, Jean Varella de Oliveira F, Costa Da Costa J
Epilepsy Behav 2024 Jan;150:109565. Epub 2023 Dec 8 doi: 10.1016/j.yebeh.2023.109565. PMID: 38070410
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network
JAMA Neurol 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. PMID: 37486637Free PMC Article
Avansini SH, Puppo F, Adams JW, Vieira AS, Coan AC, Rogerio F, Torres FR, Araújo PAOR, Martin M, Montenegro MA, Yasuda CL, Tedeschi H, Ghizoni E, França AFEC, Alvim MKM, Athié MC, Rocha CS, Almeida VS, Dias EV, Delay L, Molina E, Yaksh TL, Cendes F, Lopes Cendes I, Muotri AR
Brain 2022 Jun 30;145(6):1962-1977. doi: 10.1093/brain/awab479. PMID: 34957478Free PMC Article
Oegema R, McGillivray G, Leventer R, Le Moing AG, Bahi-Buisson N, Barnicoat A, Mandelstam S, Francis D, Francis F, Mancini GMS, Savelberg S, van Haaften G, Mankad K, Lequin MH
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):627-637. Epub 2019 Nov 11 doi: 10.1002/ajmg.c.31751. PMID: 31710781Free PMC Article
Stouffer MA, Golden JA, Francis F
Neurobiol Dis 2016 Aug;92(Pt A):18-45. Epub 2015 Aug 20 doi: 10.1016/j.nbd.2015.08.003. PMID: 26299390Free PMC Article

Diagnosis

Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network
JAMA Neurol 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. PMID: 37486637Free PMC Article
Faistauer M, Lang Silva A, Félix TM, Todeschini de Souza L, Bohn R, Selaimen da Costa S, Petersen Schmidt Rosito L
Braz J Otorhinolaryngol 2022 Nov-Dec;88 Suppl 1(Suppl 1):S33-S41. Epub 2021 Mar 20 doi: 10.1016/j.bjorl.2021.02.012. PMID: 33839059Free PMC Article
Huang RN, Chen JY, Pan H, Liu QQ
J Matern Fetal Neonatal Med 2022 Dec;35(24):4788-4796. Epub 2020 Dec 28 doi: 10.1080/14767058.2020.1863941. PMID: 33371747
Stutterd CA, Leventer RJ
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):227-39. Epub 2014 May 28 doi: 10.1002/ajmg.c.31399. PMID: 24888723
Pal DK, Pong AW, Chung WK
Nat Rev Neurol 2010 Aug;6(8):445-53. Epub 2010 Jul 20 doi: 10.1038/nrneurol.2010.92. PMID: 20647993

Therapy

Cooper MS, Mackay MT, Fahey M, Reddihough D, Reid SM, Williams K, Harvey AS
Pediatrics 2017 Mar;139(3) Epub 2017 Feb 16 doi: 10.1542/peds.2016-2975. PMID: 28209769
Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L
Epilepsia 2011 Oct;52(10):1828-34. Epub 2011 Jul 19 doi: 10.1111/j.1528-1167.2011.03181.x. PMID: 21770924
Saito Y, Sugai K, Nakagawa E, Sakuma H, Komaki H, Sasaki M, Maegaki Y, Ohno K, Sato N, Kaneko Y, Otsuki T
J Neurol Sci 2009 Feb 15;277(1-2):37-49. Epub 2008 Nov 26 doi: 10.1016/j.jns.2008.10.009. PMID: 19036389
Labate A, Colosimo E, Gambardella A, Leggio U, Ambrosio R, Loi M, Quattrone A
Brain Dev 2006 Apr;28(3):170-4. Epub 2006 Jan 18 doi: 10.1016/j.braindev.2005.06.005. PMID: 16413721
Chiron C, Nabbout R, Pinton F, Nuttin C, Dulac O, Syrota A
Epilepsy Res 1996 Jun;24(2):109-17. doi: 10.1016/0920-1211(96)00002-2. PMID: 8796359

Prognosis

Macdonald-Laurs E, Warren AEL, Francis P, Mandelstam SA, Lee WS, Coleman M, Stephenson SEM, Barton S, D'Arcy C, Lockhart PJ, Leventer RJ, Harvey AS
Brain 2024 Apr 4;147(4):1264-1277. doi: 10.1093/brain/awad379. PMID: 37939785
Hardy D, Buhler E, Suchkov D, Vinck A, Fortoul A, Watrin F, Represa A, Minlebaev M, Manent JB
Neurobiol Dis 2023 Feb;177:106002. Epub 2023 Jan 14 doi: 10.1016/j.nbd.2023.106002. PMID: 36649744
Eisman S, Husein N, Fehlings D, Andersen J, Oskoui M, Shevell M; Canadian Cerebral Palsy Registry
Pediatr Neurol 2023 Mar;140:59-64. Epub 2022 Dec 24 doi: 10.1016/j.pediatrneurol.2022.12.004. PMID: 36640520
Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium, Beldjord C, Chelly J
Brain 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082. PMID: 24860126
Pal DK, Pong AW, Chung WK
Nat Rev Neurol 2010 Aug;6(8):445-53. Epub 2010 Jul 20 doi: 10.1038/nrneurol.2010.92. PMID: 20647993

Clinical prediction guides

Avansini SH, Puppo F, Adams JW, Vieira AS, Coan AC, Rogerio F, Torres FR, Araújo PAOR, Martin M, Montenegro MA, Yasuda CL, Tedeschi H, Ghizoni E, França AFEC, Alvim MKM, Athié MC, Rocha CS, Almeida VS, Dias EV, Delay L, Molina E, Yaksh TL, Cendes F, Lopes Cendes I, Muotri AR
Brain 2022 Jun 30;145(6):1962-1977. doi: 10.1093/brain/awab479. PMID: 34957478Free PMC Article
Stouffer MA, Golden JA, Francis F
Neurobiol Dis 2016 Aug;92(Pt A):18-45. Epub 2015 Aug 20 doi: 10.1016/j.nbd.2015.08.003. PMID: 26299390Free PMC Article
Kuchukhidze G, Wieselthaler-Hölzl A, Drexel M, Unterberger I, Luef G, Ortler M, Becker AJ, Trinka E, Sperk G
Epilepsia 2015 Aug;56(8):1207-16. Epub 2015 Jun 17 doi: 10.1111/epi.13053. PMID: 26081613Free PMC Article
Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium, Beldjord C, Chelly J
Brain 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082. PMID: 24860126
Pal DK, Pong AW, Chung WK
Nat Rev Neurol 2010 Aug;6(8):445-53. Epub 2010 Jul 20 doi: 10.1038/nrneurol.2010.92. PMID: 20647993

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