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Bilateral polymicrogyria

MedGen UID:
1647593
Concept ID:
C4707565
Congenital Abnormality
Synonym: bilateral polymicrogyria
SNOMED CT: Bilateral polymicrogyria (765757003)
 
HPO: HP:0025646
Monarch Initiative: MONDO:0017091
Orphanet: ORPHA268940

Definition

Polymicrogyria that affects all or some of both cerebral hemispheres. [from HPO]

Conditions with this feature

SIN3A-related intellectual disability syndrome due to a point mutation
MedGen UID:
934771
Concept ID:
C4310804
Disease or Syndrome
Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder with characteristic distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging (summary by Balasubramanian et al., 2021).

Professional guidelines

PubMed

Saito Y, Sugai K, Nakagawa E, Sakuma H, Komaki H, Sasaki M, Maegaki Y, Ohno K, Sato N, Kaneko Y, Otsuki T
J Neurol Sci 2009 Feb 15;277(1-2):37-49. Epub 2008 Nov 26 doi: 10.1016/j.jns.2008.10.009. PMID: 19036389
Guerrini R, Carrozzo R
Seizure 2002 Apr;11 Suppl A:532-43; quiz 544-7. PMID: 12185771
Guerrini R, Carrozzo R
Seizure 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. PMID: 11749114

Recent clinical studies

Etiology

Epilepsy Phenome/Genome Project, Epi4K Consortium
Epilepsia 2021 Apr;62(4):973-983. Epub 2021 Apr 5 doi: 10.1111/epi.16854. PMID: 33818783Free PMC Article
Braden RO, Boyce JO, Stutterd CA, Pope K, Goel H, Leventer RJ, Scheffer IE, Morgan AT
Neurology 2021 Apr 6;96(14):e1898-e1912. Epub 2021 Feb 15 doi: 10.1212/WNL.0000000000011698. PMID: 33589534
Saito Y, Sugai K, Nakagawa E, Sakuma H, Komaki H, Sasaki M, Maegaki Y, Ohno K, Sato N, Kaneko Y, Otsuki T
J Neurol Sci 2009 Feb 15;277(1-2):37-49. Epub 2008 Nov 26 doi: 10.1016/j.jns.2008.10.009. PMID: 19036389
Echaniz-Laguna A, de Saint-Martin A, Lafontaine AL, Tasch E, Thomas P, Hirsh E, Marescaux C, Andermann F
Arch Neurol 2000 Jan;57(1):123-7. doi: 10.1001/archneur.57.1.123. PMID: 10634459
Bartolomei F, Gavaret M, Dravet C, Guye M, Bally-Berard JY, Genton P, Raybaud C, Régis J, Gastaut JL
Eur Neurol 1999 Jul;42(1):11-6. doi: 10.1159/000008062. PMID: 10394042

Diagnosis

Epilepsy Phenome/Genome Project, Epi4K Consortium
Epilepsia 2021 Apr;62(4):973-983. Epub 2021 Apr 5 doi: 10.1111/epi.16854. PMID: 33818783Free PMC Article
Andelman-Gur MM, Leventer RJ, Hujirat M, Ganos C, Yosovich K, Carmi N, Lev D, Nissenkorn A, Dobyns WB, Bhatia K, Lerman-Sagie T, Blumkin L
Am J Med Genet A 2020 Oct;182(10):2207-2213. Epub 2020 Aug 17 doi: 10.1002/ajmg.a.61795. PMID: 33001581
Giordano L, Vignoli A, Pinelli L, Brancati F, Accorsi P, Faravelli F, Gasparotti R, Granata T, Giaccone G, Inverardi F, Frassoni C, Dallapiccola B, Valente EM, Spreafico R
Am J Med Genet A 2009 Jul;149A(7):1511-5. doi: 10.1002/ajmg.a.32936. PMID: 19533793
Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA
Neurology 2004 May 25;62(10):1722-8. doi: 10.1212/01.wnl.0000125187.52952.e9. PMID: 15159468
Echaniz-Laguna A, de Saint-Martin A, Lafontaine AL, Tasch E, Thomas P, Hirsh E, Marescaux C, Andermann F
Arch Neurol 2000 Jan;57(1):123-7. doi: 10.1001/archneur.57.1.123. PMID: 10634459

Therapy

Pearl PL, Poduri A, Prabhu SP, Harini C, Goldstein R, Atkinson RM, Armstrong D, Kinney H
Epilepsia 2018 Apr;59(4):e40-e44. Epub 2018 Feb 23 doi: 10.1111/epi.14032. PMID: 29473152
Cukiert A, Mariani PP, Burattini JA, Cukiert CM, Forster C, Baise C, Argentoni-Baldochi M, Mello V
Epilepsia 2010 Feb;51(2):301-3. Epub 2009 Sep 22 doi: 10.1111/j.1528-1167.2009.02278.x. PMID: 19780799
Saito Y, Sugai K, Nakagawa E, Sakuma H, Komaki H, Sasaki M, Maegaki Y, Ohno K, Sato N, Kaneko Y, Otsuki T
J Neurol Sci 2009 Feb 15;277(1-2):37-49. Epub 2008 Nov 26 doi: 10.1016/j.jns.2008.10.009. PMID: 19036389

Prognosis

Baba S, Okanishi T, Nishimura M, Kanai S, Itamura S, Suzuki T, Masuda Y, Enoki H, Fujimoto A
Brain Dev 2018 Sep;40(8):719-723. Epub 2018 Apr 3 doi: 10.1016/j.braindev.2018.03.007. PMID: 29622280
Pearl PL, Poduri A, Prabhu SP, Harini C, Goldstein R, Atkinson RM, Armstrong D, Kinney H
Epilepsia 2018 Apr;59(4):e40-e44. Epub 2018 Feb 23 doi: 10.1111/epi.14032. PMID: 29473152
Titomanlio L, Baumann C, Bonyhay G, Huten Y, Oury JF, Vuillard E, Garel C, Terdjman P, Verloes A, Delezoide AL
Am J Med Genet A 2005 Sep 15;138(1):1-5. doi: 10.1002/ajmg.a.30914. PMID: 16097005
Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA
Neurology 2004 May 25;62(10):1722-8. doi: 10.1212/01.wnl.0000125187.52952.e9. PMID: 15159468
Bartolomei F, Gavaret M, Dravet C, Guye M, Bally-Berard JY, Genton P, Raybaud C, Régis J, Gastaut JL
Eur Neurol 1999 Jul;42(1):11-6. doi: 10.1159/000008062. PMID: 10394042

Clinical prediction guides

Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar, Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA
Hum Mol Genet 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. PMID: 36067010Free PMC Article
Andelman-Gur MM, Leventer RJ, Hujirat M, Ganos C, Yosovich K, Carmi N, Lev D, Nissenkorn A, Dobyns WB, Bhatia K, Lerman-Sagie T, Blumkin L
Am J Med Genet A 2020 Oct;182(10):2207-2213. Epub 2020 Aug 17 doi: 10.1002/ajmg.a.61795. PMID: 33001581
Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N
Eur J Med Genet 2018 Dec;61(12):765-772. Epub 2018 Oct 11 doi: 10.1016/j.ejmg.2018.10.004. PMID: 30315939
Fujii Y, Ishikawa N, Kobayashi Y, Kobayashi M, Kato M
Brain Dev 2014 Jun;36(6):528-31. Epub 2013 Aug 24 doi: 10.1016/j.braindev.2013.07.015. PMID: 23981349

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