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Mild malformation of cortical development

MedGen UID:
1670975
Concept ID:
C4732830
Congenital Abnormality
HPO: HP:0032059

Definition

A malformation of cortical development characterized by mild abnormalities of the cortex [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Mild malformation of cortical development

Professional guidelines

PubMed

Aledo-Serrano Á, Valls-Carbó A, Fenger CD, Groeppel G, Hartlieb T, Pascual I, Herraez E, Cabal B, García-Morales I, Toledano R, Budke M, Beltran-Corbellini Á, Baldassari S, Coras R, Kobow K, Herrera DM, Del Barrio A, Dahl HA, Del Pino I, Baulac S, Blumcke I, Møller RS, Gil-Nagel A
Neurotherapeutics 2023 Sep;20(5):1294-1304. Epub 2023 Jun 6 doi: 10.1007/s13311-023-01395-z. PMID: 37278968Free PMC Article

Recent clinical studies

Etiology

Liu X, Zhu Y, Liu Q, Zhang S, Wu P, Sun Y, Zhang J, Wang R, Ji T, Wang S, Liu X, Jiang Y, Cai L, Wu Y
Epilepsia Open 2023 Sep;8(3):898-911. Epub 2023 May 16 doi: 10.1002/epi4.12755. PMID: 37144544Free PMC Article
Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group
Neurology 2023 Jan 31;100(5):e528-e542. Epub 2022 Oct 28 doi: 10.1212/WNL.0000000000201471. PMID: 36307217Free PMC Article
Pinheiro J, Honavar M
Indian J Pathol Microbiol 2022 May;65(Supplement):S189-S197. doi: 10.4103/ijpm.ijpm_1226_21. PMID: 35562149
Seetharam R, Nooraine J, Mhatre R, Ramachandran J, Iyer RB, Mahadevan A
Epileptic Disord 2021 Apr 1;23(2):407-411. doi: 10.1684/epd.2021.1280. PMID: 33935026
Lamberink HJ, Otte WM, Blümcke I, Braun KPJ; European Epilepsy Brain Bank writing group; study group; European Reference Network EpiCARE
Lancet Neurol 2020 Sep;19(9):748-757. doi: 10.1016/S1474-4422(20)30220-9. PMID: 32822635

Diagnosis

Liu X, Zhu Y, Liu Q, Zhang S, Wu P, Sun Y, Zhang J, Wang R, Ji T, Wang S, Liu X, Jiang Y, Cai L, Wu Y
Epilepsia Open 2023 Sep;8(3):898-911. Epub 2023 May 16 doi: 10.1002/epi4.12755. PMID: 37144544Free PMC Article
Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group
Neurology 2023 Jan 31;100(5):e528-e542. Epub 2022 Oct 28 doi: 10.1212/WNL.0000000000201471. PMID: 36307217Free PMC Article
Pinheiro J, Honavar M
Indian J Pathol Microbiol 2022 May;65(Supplement):S189-S197. doi: 10.4103/ijpm.ijpm_1226_21. PMID: 35562149
Seetharam R, Nooraine J, Mhatre R, Ramachandran J, Iyer RB, Mahadevan A
Epileptic Disord 2021 Apr 1;23(2):407-411. doi: 10.1684/epd.2021.1280. PMID: 33935026
Lamberink HJ, Otte WM, Blümcke I, Braun KPJ; European Epilepsy Brain Bank writing group; study group; European Reference Network EpiCARE
Lancet Neurol 2020 Sep;19(9):748-757. doi: 10.1016/S1474-4422(20)30220-9. PMID: 32822635

Therapy

Aledo-Serrano Á, Valls-Carbó A, Fenger CD, Groeppel G, Hartlieb T, Pascual I, Herraez E, Cabal B, García-Morales I, Toledano R, Budke M, Beltran-Corbellini Á, Baldassari S, Coras R, Kobow K, Herrera DM, Del Barrio A, Dahl HA, Del Pino I, Baulac S, Blumcke I, Møller RS, Gil-Nagel A
Neurotherapeutics 2023 Sep;20(5):1294-1304. Epub 2023 Jun 6 doi: 10.1007/s13311-023-01395-z. PMID: 37278968Free PMC Article
Lamberink HJ, Otte WM, Blümcke I, Braun KPJ; European Epilepsy Brain Bank writing group; study group; European Reference Network EpiCARE
Lancet Neurol 2020 Sep;19(9):748-757. doi: 10.1016/S1474-4422(20)30220-9. PMID: 32822635
Chou CC, Lee CC, Lin CF, Chen YH, Peng SJ, Hsiao FJ, Yu HY, Chen C, Chen HH, Shih YH
Neurosurg Focus 2020 Apr 1;48(4):E8. doi: 10.3171/2020.1.FOCUS19914. PMID: 32234986

Prognosis

Liu X, Zhu Y, Liu Q, Zhang S, Wu P, Sun Y, Zhang J, Wang R, Ji T, Wang S, Liu X, Jiang Y, Cai L, Wu Y
Epilepsia Open 2023 Sep;8(3):898-911. Epub 2023 May 16 doi: 10.1002/epi4.12755. PMID: 37144544Free PMC Article
Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group
Neurology 2023 Jan 31;100(5):e528-e542. Epub 2022 Oct 28 doi: 10.1212/WNL.0000000000201471. PMID: 36307217Free PMC Article
Gaballa A, Woermann FG, Cloppenborg T, Kalbhenn T, Blümcke I, Bien CG, Fauser S
Epilepsia 2021 Dec;62(12):2920-2931. Epub 2021 Oct 11 doi: 10.1111/epi.17084. PMID: 34636039
Lamberink HJ, Otte WM, Blümcke I, Braun KPJ; European Epilepsy Brain Bank writing group; study group; European Reference Network EpiCARE
Lancet Neurol 2020 Sep;19(9):748-757. doi: 10.1016/S1474-4422(20)30220-9. PMID: 32822635
Veersema TJ, van Schooneveld MMJ, Ferrier CH, van Eijsden P, Gosselaar PH, van Rijen PC, Spliet WGM, Mühlebner A, Aronica E, Braun KPJ
Epilepsy Behav 2019 May;94:209-215. Epub 2019 Apr 8 doi: 10.1016/j.yebeh.2019.03.009. PMID: 30974349

Clinical prediction guides

Aledo-Serrano Á, Valls-Carbó A, Fenger CD, Groeppel G, Hartlieb T, Pascual I, Herraez E, Cabal B, García-Morales I, Toledano R, Budke M, Beltran-Corbellini Á, Baldassari S, Coras R, Kobow K, Herrera DM, Del Barrio A, Dahl HA, Del Pino I, Baulac S, Blumcke I, Møller RS, Gil-Nagel A
Neurotherapeutics 2023 Sep;20(5):1294-1304. Epub 2023 Jun 6 doi: 10.1007/s13311-023-01395-z. PMID: 37278968Free PMC Article
Liu X, Zhu Y, Liu Q, Zhang S, Wu P, Sun Y, Zhang J, Wang R, Ji T, Wang S, Liu X, Jiang Y, Cai L, Wu Y
Epilepsia Open 2023 Sep;8(3):898-911. Epub 2023 May 16 doi: 10.1002/epi4.12755. PMID: 37144544Free PMC Article
Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group
Neurology 2023 Jan 31;100(5):e528-e542. Epub 2022 Oct 28 doi: 10.1212/WNL.0000000000201471. PMID: 36307217Free PMC Article
Kwon HE, Kim SH, Kang HC, Lee JS, Kim HD
Seizure 2020 Nov;82:50-55. Epub 2020 Sep 23 doi: 10.1016/j.seizure.2020.09.019. PMID: 33002834
Schurr J, Coras R, Rössler K, Pieper T, Kudernatsch M, Holthausen H, Winkler P, Woermann F, Bien CG, Polster T, Schulz R, Kalbhenn T, Urbach H, Becker A, Grunwald T, Huppertz HJ, Gil-Nagel A, Toledano R, Feucht M, Mühlebner A, Czech T, Blümcke I
Brain Pathol 2017 Jan;27(1):26-35. Epub 2016 Feb 22 doi: 10.1111/bpa.12347. PMID: 26748554Free PMC Article

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