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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

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
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Recent clinical studies

Etiology

Coras R, Holthausen H, Sarnat HB
Brain Pathol 2021 Jul;31(4):e12964. doi: 10.1111/bpa.12964. PMID: 34196986Free PMC Article
Reghunath A, Ghasi RG
Childs Nerv Syst 2020 Jan;36(1):27-38. Epub 2019 Nov 27 doi: 10.1007/s00381-019-04429-0. PMID: 31776716
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
Blumcke I, Spreafico R, Haaker G, Coras R, Kobow K, Bien CG, Pfäfflin M, Elger C, Widman G, Schramm J, Becker A, Braun KP, Leijten F, Baayen JC, Aronica E, Chassoux F, Hamer H, Stefan H, Rössler K, Thom M, Walker MC, Sisodiya SM, Duncan JS, McEvoy AW, Pieper T, Holthausen H, Kudernatsch M, Meencke HJ, Kahane P, Schulze-Bonhage A, Zentner J, Heiland DH, Urbach H, Steinhoff BJ, Bast T, Tassi L, Lo Russo G, Özkara C, Oz B, Krsek P, Vogelgesang S, Runge U, Lerche H, Weber Y, Honavar M, Pimentel J, Arzimanoglou A, Ulate-Campos A, Noachtar S, Hartl E, Schijns O, Guerrini R, Barba C, Jacques TS, Cross JH, Feucht M, Mühlebner A, Grunwald T, Trinka E, Winkler PA, Gil-Nagel A, Toledano Delgado R, Mayer T, Lutz M, Zountsas B, Garganis K, Rosenow F, Hermsen A, von Oertzen TJ, Diepgen TL, Avanzini G; EEBB Consortium
N Engl J Med 2017 Oct 26;377(17):1648-1656. doi: 10.1056/NEJMoa1703784. PMID: 29069555

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
Blumcke I, Spreafico R, Haaker G, Coras R, Kobow K, Bien CG, Pfäfflin M, Elger C, Widman G, Schramm J, Becker A, Braun KP, Leijten F, Baayen JC, Aronica E, Chassoux F, Hamer H, Stefan H, Rössler K, Thom M, Walker MC, Sisodiya SM, Duncan JS, McEvoy AW, Pieper T, Holthausen H, Kudernatsch M, Meencke HJ, Kahane P, Schulze-Bonhage A, Zentner J, Heiland DH, Urbach H, Steinhoff BJ, Bast T, Tassi L, Lo Russo G, Özkara C, Oz B, Krsek P, Vogelgesang S, Runge U, Lerche H, Weber Y, Honavar M, Pimentel J, Arzimanoglou A, Ulate-Campos A, Noachtar S, Hartl E, Schijns O, Guerrini R, Barba C, Jacques TS, Cross JH, Feucht M, Mühlebner A, Grunwald T, Trinka E, Winkler PA, Gil-Nagel A, Toledano Delgado R, Mayer T, Lutz M, Zountsas B, Garganis K, Rosenow F, Hermsen A, von Oertzen TJ, Diepgen TL, Avanzini G; EEBB Consortium
N Engl J Med 2017 Oct 26;377(17):1648-1656. doi: 10.1056/NEJMoa1703784. PMID: 29069555
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
Blümcke I, Thom M, Aronica E, Armstrong DD, Vinters HV, Palmini A, Jacques TS, Avanzini G, Barkovich AJ, Battaglia G, Becker A, Cepeda C, Cendes F, Colombo N, Crino P, Cross JH, Delalande O, Dubeau F, Duncan J, Guerrini R, Kahane P, Mathern G, Najm I, Ozkara C, Raybaud C, Represa A, Roper SN, Salamon N, Schulze-Bonhage A, Tassi L, Vezzani A, Spreafico R
Epilepsia 2011 Jan;52(1):158-74. Epub 2010 Nov 10 doi: 10.1111/j.1528-1167.2010.02777.x. PMID: 21219302Free PMC Article
Eriksson SH, Malmgren K, Nordborg C
Acta Neurol Scand 2005 May;111(5):279-90. doi: 10.1111/j.1600-0404.2005.00386.x. PMID: 15819707

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
Chugani HT
Curr Opin Neurol 1995 Apr;8(2):139-44. doi: 10.1097/00019052-199504000-00010. PMID: 7620588

Prognosis

Reghunath A, Ghasi RG
Childs Nerv Syst 2020 Jan;36(1):27-38. Epub 2019 Nov 27 doi: 10.1007/s00381-019-04429-0. PMID: 31776716
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
Cendes F, Sakamoto AC, Spreafico R, Bingaman W, Becker AJ
Acta Neuropathol 2014 Jul;128(1):21-37. Epub 2014 May 14 doi: 10.1007/s00401-014-1292-0. PMID: 24823761
Guerrini R, Pellacani S
Epilepsia 2012 Sep;53 Suppl 4:9-18. doi: 10.1111/j.1528-1167.2012.03609.x. PMID: 22946717
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
Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I
Am J Med Genet A 2021 Dec;185(12):3728-3739. Epub 2021 Aug 3 doi: 10.1002/ajmg.a.62443. PMID: 34346154Free 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

Recent systematic reviews

Li Y, Liu P, Lin Q, Zhou D, An D
Epilepsia 2023 Nov;64(11):2845-2860. Epub 2023 Sep 30 doi: 10.1111/epi.17757. PMID: 37611927
Freibauer AE, RamachandranNair R, Jain P, Jones KC, Whitney R
Seizure 2023 Aug;110:119-125. Epub 2023 Jun 20 doi: 10.1016/j.seizure.2023.06.017. PMID: 37352690
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
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

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