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Isolated focal cortical dysplasia

MedGen UID:
1645432
Concept ID:
C4707795
Congenital Abnormality
Synonyms: Epilepsy due to FCD; epilepsy due to FCD; isolated focal cortical dysplasia
SNOMED CT: Isolated focal cortical dysplasia (766710005)
 
Monarch Initiative: MONDO:0019009
Orphanet: ORPHA65683

Definition

A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterised by variable-sized, focalised malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioural disturbances. Abnormal MRI findings (for example abnormal white and/or grey matter signal, blurred grey-white matter junction, localised volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. [from SNOMEDCT_US]

Professional guidelines

PubMed

Chen SD, Pan HY, Huang JB, Liu XP, Li JH, Ho CJ, Tsai MH, Yang JL, Chen SF, Chen NC, Chuang YC
Cells 2020 Aug 10;9(8) doi: 10.3390/cells9081867. PMID: 32785072Free PMC Article
Blümcke I, Mühlebner A
Clin Neuropathol 2011 Jul-Aug;30(4):164-77. doi: 10.5414/np300398. PMID: 21726501

Recent clinical studies

Etiology

Choi SA, Kim SY, Kim H, Kim WJ, Kim H, Hwang H, Choi JE, Lim BC, Chae JH, Chong S, Lee JY, Phi JH, Kim SK, Wang KC, Kim KJ
Epilepsy Res 2018 Jan;139:54-59. Epub 2017 Nov 27 doi: 10.1016/j.eplepsyres.2017.11.012. PMID: 29197666
Jayalakshmi S, Vooturi S, Vadapalli R, Somayajula S, Madigubba S, Panigrahi M
Int J Surg 2016 Dec;36(Pt B):443-447. Epub 2015 May 12 doi: 10.1016/j.ijsu.2015.05.006. PMID: 25979111
Miles L, Greiner HM, Mangano FT, Horn PS, Leach JL, Miles MV
Metab Brain Dis 2015 Oct;30(5):1151-60. Epub 2015 May 10 doi: 10.1007/s11011-015-9680-2. PMID: 25957585
Tenney JR, Rozhkov L, Horn P, Miles L, Miles MV
Epilepsia 2014 Sep;55(9):1415-22. Epub 2014 Jul 22 doi: 10.1111/epi.12731. PMID: 25053176
Miles L, Greiner HM, Miles MV, Mangano FT, Horn PS, Leach JL, Seo JH, Lee KH
J Neuropathol Exp Neurol 2013 Sep;72(9):884-91. doi: 10.1097/NEN.0b013e3182a38d88. PMID: 23965747

Diagnosis

Hoelz H, Coppenrath E, Hoertnagel K, Roser T, Tacke M, Gerstl L, Borggraefe I
Clin EEG Neurosci 2018 May;49(3):187-191. Epub 2017 Mar 7 doi: 10.1177/1550059417697841. PMID: 28762286
Miles L, Greiner HM, Mangano FT, Horn PS, Leach JL, Miles MV
Metab Brain Dis 2015 Oct;30(5):1151-60. Epub 2015 May 10 doi: 10.1007/s11011-015-9680-2. PMID: 25957585
Tenney JR, Rozhkov L, Horn P, Miles L, Miles MV
Epilepsia 2014 Sep;55(9):1415-22. Epub 2014 Jul 22 doi: 10.1111/epi.12731. PMID: 25053176

Therapy

Choi SA, Kim SY, Kim H, Kim WJ, Kim H, Hwang H, Choi JE, Lim BC, Chae JH, Chong S, Lee JY, Phi JH, Kim SK, Wang KC, Kim KJ
Epilepsy Res 2018 Jan;139:54-59. Epub 2017 Nov 27 doi: 10.1016/j.eplepsyres.2017.11.012. PMID: 29197666
Sarkar C, Sharma MC, Deb P, Singh VP, Chandra PS, Gupta A, Tripathi M, Bhatia M, Gaikwad S, Bal CS, Jain S
Neurol India 2006 Jun;54(2):144-50; discussion 150-1. PMID: 16804257

Prognosis

Choi SA, Kim SY, Kim H, Kim WJ, Kim H, Hwang H, Choi JE, Lim BC, Chae JH, Chong S, Lee JY, Phi JH, Kim SK, Wang KC, Kim KJ
Epilepsy Res 2018 Jan;139:54-59. Epub 2017 Nov 27 doi: 10.1016/j.eplepsyres.2017.11.012. PMID: 29197666
Jayalakshmi S, Vooturi S, Vadapalli R, Somayajula S, Madigubba S, Panigrahi M
Int J Surg 2016 Dec;36(Pt B):443-447. Epub 2015 May 12 doi: 10.1016/j.ijsu.2015.05.006. PMID: 25979111
Miles L, Greiner HM, Miles MV, Mangano FT, Horn PS, Leach JL, Seo JH, Lee KH
J Neuropathol Exp Neurol 2013 Sep;72(9):884-91. doi: 10.1097/NEN.0b013e3182a38d88. PMID: 23965747

Clinical prediction guides

Choi SA, Kim SY, Kim H, Kim WJ, Kim H, Hwang H, Choi JE, Lim BC, Chae JH, Chong S, Lee JY, Phi JH, Kim SK, Wang KC, Kim KJ
Epilepsy Res 2018 Jan;139:54-59. Epub 2017 Nov 27 doi: 10.1016/j.eplepsyres.2017.11.012. PMID: 29197666
Jayalakshmi S, Vooturi S, Vadapalli R, Somayajula S, Madigubba S, Panigrahi M
Int J Surg 2016 Dec;36(Pt B):443-447. Epub 2015 May 12 doi: 10.1016/j.ijsu.2015.05.006. PMID: 25979111

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