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Malformation of cortical development(MCD)

MedGen UID:
364975
Concept ID:
C1955869
Disease or Syndrome
Synonym: MCD
 
Related genes: ARX, TUBA1A, RELN, PAFAH1B1, LAMB1, DCX

Definition

A group of neural cortical developmental malformations of diverse genetic causes. Clinical manifestations include epilepsy and developmental delays. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Liu W, Cheng M, Zhu Y, Chen Y, Yang Y, Chen H, Niu X, Tian X, Yang X, Zhang Y
Dev Med Child Neurol 2023 Apr;65(4):534-543. Epub 2022 Sep 29 doi: 10.1111/dmcn.15414. PMID: 36175372
Specchio N, Pietrafusa N, Ferretti A, De Palma L, Santarone ME, Pepi C, Trivisano M, Vigevano F, Curatolo P
Expert Rev Neurother 2020 Jun;20(6):551-566. Epub 2020 Jun 19 doi: 10.1080/14737175.2020.1759423. PMID: 32316776
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR
J Med Genet 2017 Jul;54(7):460-470. Epub 2017 Apr 4 doi: 10.1136/jmedgenet-2016-104509. PMID: 28377535Free PMC Article

Recent clinical studies

Etiology

Almacellas Barbanoj A, Graham RT, Maffei B, Carpenter JC, Leite M, Hoke J, Hardjo F, Scott-Solache J, Chimonides C, Schorge S, Kullmann DM, Magloire V, Lignani G
Brain 2024 Feb 1;147(2):542-553. doi: 10.1093/brain/awad387. PMID: 38100333Free PMC Article
Matsuzawa N, Poon LC, Machida M, Nakamura T, Uenishi K, Wah YM, Moungmaithong S, Itakura A, Chiyo H, Pooh RK
J Ultrasound Med 2023 Jul;42(7):1445-1457. Epub 2022 Dec 19 doi: 10.1002/jum.16153. PMID: 36534508
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
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article

Diagnosis

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
López-Rivera JA, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, Bhattarai N, Pérez-Palma E, Hamer H, Brandner S, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Butler E, Genovese G, Becker K, Altmüller J, Niestroj LM, Ferguson L, Busch RM, Nürnberg P, Najm I, Blümcke I, Lal D
Brain 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376. PMID: 36226386Free 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
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR
J Med Genet 2017 Jul;54(7):460-470. Epub 2017 Apr 4 doi: 10.1136/jmedgenet-2016-104509. PMID: 28377535Free PMC Article

Therapy

Makridis KL, Klotz KA, Ramantani G, Becker LL, San Antonio-Arce V, Syrbe S, Wagner K, Shah MJ, Thomale UW, Tietze A, Elger CE, Borggraefe I, Kaindl AM
Epilepsia Open 2023 Sep;8(3):1182-1189. Epub 2023 Jul 23 doi: 10.1002/epi4.12791. PMID: 37458529Free PMC Article
Specchio N, Pietrafusa N, Ferretti A, De Palma L, Santarone ME, Pepi C, Trivisano M, Vigevano F, Curatolo P
Expert Rev Neurother 2020 Jun;20(6):551-566. Epub 2020 Jun 19 doi: 10.1080/14737175.2020.1759423. PMID: 32316776
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR
J Med Genet 2017 Jul;54(7):460-470. Epub 2017 Apr 4 doi: 10.1136/jmedgenet-2016-104509. PMID: 28377535Free PMC Article
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264

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
Balestrini S, Barba C, Thom M, Guerrini R
Pract Neurol 2023 Aug;23(4):293-302. Epub 2023 Feb 23 doi: 10.1136/pn-2022-003404. PMID: 36823117
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
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264

Clinical prediction guides

Balestrini S, Barba C, Thom M, Guerrini R
Pract Neurol 2023 Aug;23(4):293-302. Epub 2023 Feb 23 doi: 10.1136/pn-2022-003404. PMID: 36823117
Matsuzawa N, Poon LC, Machida M, Nakamura T, Uenishi K, Wah YM, Moungmaithong S, Itakura A, Chiyo H, Pooh RK
J Ultrasound Med 2023 Jul;42(7):1445-1457. Epub 2022 Dec 19 doi: 10.1002/jum.16153. PMID: 36534508
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
López-Rivera JA, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, Bhattarai N, Pérez-Palma E, Hamer H, Brandner S, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Butler E, Genovese G, Becker K, Altmüller J, Niestroj LM, Ferguson L, Busch RM, Nürnberg P, Najm I, Blümcke I, Lal D
Brain 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376. PMID: 36226386Free PMC Article
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article

Recent systematic reviews

Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F
Prenat Diagn 2024 Apr;44(4):422-431. Epub 2023 Dec 6 doi: 10.1002/pd.6466. PMID: 38054560Free PMC Article
Brock S, Cools F, Jansen AC
Neuropathol Appl Neurobiol 2021 Aug;47(5):585-602. Epub 2021 Feb 14 doi: 10.1111/nan.12696. PMID: 33480109Free PMC Article
Mutti C, Riccò M, Bartolini Y, Bernabè G, Trippi I, Melpignano A, Ciliento R, Zinno L, Florindo I, Sasso E, Odone A, Parrino L, Vaudano AE
Epilepsia 2021 Feb;62(2):383-396. Epub 2020 Dec 16 doi: 10.1111/epi.16787. PMID: 33325054
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264

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