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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

D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.
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

SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE.
Elziny S, Crino PB, Winawer M
Neurobiol Dis 2023 Oct 15;187:106299. Epub 2023 Sep 20 doi: 10.1016/j.nbd.2023.106299. PMID: 37739137Free PMC Article
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
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
Focal cortical dysplasia: Updates.
Pinheiro J, Honavar M
Indian J Pathol Microbiol 2022 May;65(Supplement):S189-S197. doi: 10.4103/ijpm.ijpm_1226_21. PMID: 35562149
Epilepsy surgery for pediatric patients with mild malformation of cortical development.
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
Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study.
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

Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
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
Focal cortical dysplasia: Updates.
Pinheiro J, Honavar M
Indian J Pathol Microbiol 2022 May;65(Supplement):S189-S197. doi: 10.4103/ijpm.ijpm_1226_21. PMID: 35562149
Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE): a widespread disease with an apparently focal epilepsy.
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
Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).
Bonduelle T, Hartlieb T, Baldassari S, Sim NS, Kim SH, Kang HC, Kobow K, Coras R, Chipaux M, Dorfmüller G, Adle-Biassette H, Aronica E, Lee JH, Blumcke I, Baulac S
Acta Neuropathol Commun 2021 Jan 6;9(1):3. doi: 10.1186/s40478-020-01085-3. PMID: 33407896Free PMC Article
Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study.
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

D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.
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
Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study.
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
Cingulate gyrus epilepsy: semiology, invasive EEG, and surgical approaches.
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

Clinical characteristics and surgical outcomes in children with mild malformation of cortical development and oligodendroglial hyperplasia in epilepsy.
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
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
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
Clinical characteristics and postoperative seizure outcome in patients with mild malformation of cortical development and oligodendroglial hyperplasia.
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
Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study.
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
Cognitive functioning after epilepsy surgery in children with mild malformation of cortical development and focal cortical dysplasia.
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

D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.
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
Clinical characteristics and surgical outcomes in children with mild malformation of cortical development and oligodendroglial hyperplasia in epilepsy.
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
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
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
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial.
Blümcke I, Coras R, Busch RM, Morita-Sherman M, Lal D, Prayson R, Cendes F, Lopes-Cendes I, Rogerio F, Almeida VS, Rocha CS, Sim NS, Lee JH, Kim SH, Baulac S, Baldassari S, Adle-Biassette H, Walsh CA, Bizzotto S, Doan RN, Morillo KS, Aronica E, Mühlebner A, Becker A, Cienfuegos J, Garbelli R, Giannini C, Honavar M, Jacques TS, Thom M, Mahadevan A, Miyata H, Niehusmann P, Sarnat HB, Söylemezoglu F, Najm I
Epilepsia 2021 Jun;62(6):1416-1428. Epub 2021 May 5 doi: 10.1111/epi.16899. PMID: 33949696
Epilepsy surgery for pediatric patients with mild malformation of cortical development.
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

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