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Cerebral malformation with epilepsy

MedGen UID:
1842633
Concept ID:
C5680429
Congenital Abnormality
Orphanet: ORPHA166478

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebral malformation with epilepsy

Professional guidelines

PubMed

Hope OA, Harris KM
BMJ 2023 Sep 8;382:e074630. doi: 10.1136/bmj-2022-074630. PMID: 37684052
Espay AJ, Aybek S, Carson A, Edwards MJ, Goldstein LH, Hallett M, LaFaver K, LaFrance WC Jr, Lang AE, Nicholson T, Nielsen G, Reuber M, Voon V, Stone J, Morgante F
JAMA Neurol 2018 Sep 1;75(9):1132-1141. doi: 10.1001/jamaneurol.2018.1264. PMID: 29868890Free PMC Article
Hiemke C, Bergemann N, Clement HW, Conca A, Deckert J, Domschke K, Eckermann G, Egberts K, Gerlach M, Greiner C, Gründer G, Haen E, Havemann-Reinecke U, Hefner G, Helmer R, Janssen G, Jaquenoud E, Laux G, Messer T, Mössner R, Müller MJ, Paulzen M, Pfuhlmann B, Riederer P, Saria A, Schoppek B, Schoretsanitis G, Schwarz M, Gracia MS, Stegmann B, Steimer W, Stingl JC, Uhr M, Ulrich S, Unterecker S, Waschgler R, Zernig G, Zurek G, Baumann P
Pharmacopsychiatry 2018 Jan;51(1-02):9-62. Epub 2017 Sep 14 doi: 10.1055/s-0043-116492. PMID: 28910830

Recent clinical studies

Etiology

Roberts B
Radiol Technol 2018 Jan;89(3):279-295. PMID: 29298944
Kobow K, Blümcke I
Neurosci Lett 2018 Feb 22;667:40-46. Epub 2017 Jan 19 doi: 10.1016/j.neulet.2017.01.012. PMID: 28111355
Barkovich AJ, Dobyns WB, Guerrini R
Cold Spring Harb Perspect Med 2015 May 1;5(5):a022392. doi: 10.1101/cshperspect.a022392. PMID: 25934463Free PMC Article
Chatproedprai S, Wananukul S, Prasarnnaem T, Noppakun N
Int J Dermatol 2007 Aug;46(8):858-60. doi: 10.1111/j.1365-4632.2007.03085.x. PMID: 17651173
Gil-Nagel A
Neurotox Res 2003;5(1-2):45-52. doi: 10.1007/BF03033372. PMID: 12832224

Diagnosis

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
Kasinathan A, Sankhyan N, Ahuja CK, Singhi P
Indian J Pediatr 2018 Jan;85(1):79-80. Epub 2017 Jul 28 doi: 10.1007/s12098-017-2416-z. PMID: 28752282
Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB
Brain 2012 May;135(Pt 5):1348-69. Epub 2012 Mar 16 doi: 10.1093/brain/aws019. PMID: 22427329Free PMC Article
Palmini A
Curr Opin Neurol 2000 Apr;13(2):183-92. doi: 10.1097/00019052-200004000-00012. PMID: 10987577
Bate L, Gardiner M
Epileptic Disord 1999 Mar;1(1):7-19. PMID: 10937127

Therapy

Specchio N, Nabbout R, Aronica E, Auvin S, Benvenuto A, de Palma L, Feucht M, Jansen F, Kotulska K, Sarnat H, Lagae L, Jozwiak S, Curatolo P
Eur J Paediatr Neurol 2023 Nov;47:25-34. Epub 2023 Aug 30 doi: 10.1016/j.ejpn.2023.08.005. PMID: 37669572
Błaszczyk B, Miziak B, Pluta R, Czuczwar SJ
Int J Mol Sci 2022 Jan 25;23(3) doi: 10.3390/ijms23031369. PMID: 35163292Free PMC Article
Kotulska K, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Jansen F, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Sijko K, Głowacka-Walas J, Borkowska J, Sadowski K, Domańska-Pakieła D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Benova B, Aronica E, de Ridder J, Lagae L, Jóźwiak S; EPISTOP Investigators
Ann Neurol 2021 Feb;89(2):304-314. Epub 2020 Nov 27 doi: 10.1002/ana.25956. PMID: 33180985Free 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
Jain P, Sharma S, Bahi-Buisson N, Beldjord C, Aneja S
Indian J Pediatr 2015 Apr;82(4):390-1. Epub 2014 Nov 23 doi: 10.1007/s12098-014-1614-1. PMID: 25416088

Prognosis

Kobow K, Blümcke I
Neurosci Lett 2018 Feb 22;667:40-46. Epub 2017 Jan 19 doi: 10.1016/j.neulet.2017.01.012. PMID: 28111355
Kuzniecky R
Epilepsia 2004;45 Suppl 4:2-3. doi: 10.1111/j.0013-9580.2004.04002.x. PMID: 15281950
Karunanayake MC, Perera BJ
Ceylon Med J 2003 Sep;48(3):89-90. doi: 10.4038/cmj.v48i3.3354. PMID: 14735807
Schramm J
Neurosurg Clin N Am 2002 Jan;13(1):113-34, ix. doi: 10.1016/s1042-3680(02)80012-2. PMID: 11754322
Doose H
Epilepsy Res Suppl 1992;6:163-8. PMID: 1418479

Clinical prediction guides

François L, Romagnolo A, Luinenburg MJ, Anink JJ, Godard P, Rajman M, van Eyll J, Mühlebner A, Skelton A, Mills JD, Dedeurwaerdere S, Aronica E
Nat Commun 2024 Mar 11;15(1):2180. doi: 10.1038/s41467-024-46592-2. PMID: 38467626Free 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
Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, Baulac S
Acta Neuropathol 2019 Dec;138(6):885-900. Epub 2019 Aug 23 doi: 10.1007/s00401-019-02061-5. PMID: 31444548Free PMC Article
Kobow K, Blümcke I
Neurosci Lett 2018 Feb 22;667:40-46. Epub 2017 Jan 19 doi: 10.1016/j.neulet.2017.01.012. PMID: 28111355
Aronica E, Becker AJ, Spreafico R
Brain Pathol 2012 May;22(3):380-401. doi: 10.1111/j.1750-3639.2012.00581.x. PMID: 22497611Free PMC Article

Recent systematic reviews

Pepin C, Brochu K, Lessard-Bonaventure P, Nguyen DK, Martineau L
J Clin Neurophysiol 2023 Sep 1;40(6):507-515. Epub 2023 Mar 15 doi: 10.1097/WNP.0000000000000975. PMID: 36930208
Liu Z, Thergarajan P, Antonic-Baker A, Chen Z, Sparks PB, Lannin NA, Kwan P, Jones NC, Casillas-Espinosa PM, Perucca P, O'Brien TJ, Sivathamboo S
Epilepsia Open 2023 Mar;8(1):46-59. Epub 2023 Jan 31 doi: 10.1002/epi4.12692. PMID: 36648338Free 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
Burch J, Marson A, Beyer F, Soares M, Hinde S, Wieshmann U, Woolacott N
Epilepsia 2012 Aug;53(8):1294-302. Epub 2012 Jun 12 doi: 10.1111/j.1528-1167.2012.03534.x. PMID: 22690650

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