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Focal cortical dysplasia, type IIB(FCORD2B)

MedGen UID:
1390600
•Concept ID:
C4478701
•
Disease or Syndrome
Synonym: FCD IIB
SNOMED CT: Focal cortical dysplasia type IIb (1003430006)
 
HPO: HP:0032053
OMIM®: 607341

Definition

A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal cortical dysplasia, type IIB

Professional guidelines

PubMed

Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb.
Honke J, Hoffmann L, Coras R, Kobow K, Leu C, Pieper T, Hartlieb T, Bien CG, Woermann F, Cloppenborg T, Kalbhenn T, Gaballa A, Hamer H, Brandner S, Rössler K, Dörfler A, Rampp S, Lemke JR, Baldassari S, Baulac S, Lal D, Nürnberg P, Blümcke I
Acta Neuropathol Commun 2023 Nov 9;11(1):179. doi: 10.1186/s40478-023-01675-x. PMID: 37946310Free PMC Article
A comprehensive clinico-pathological and genetic evaluation of bottom-of-sulcus focal cortical dysplasia in patients with difficult-to-localize focal epilepsy.
Ying Z, Wang I, Blümcke I, Bulacio J, Alexopoulos A, Jehi L, Bingaman W, Gonzalez-Martinez J, Kobow K, Niestroj LM, Lal D, Koelble K, Najm I
Epileptic Disord 2019 Feb 1;21(1):65-77. doi: 10.1684/epd.2019.1028. PMID: 30782578
Surgical treatment of pediatric focal cortical dysplasia: Clinical spectrum and surgical outcome.
Kwon HE, Eom S, Kang HC, Lee JS, Kim SH, Kim DS, Kim HD
Neurology 2016 Aug 30;87(9):945-51. Epub 2016 Jul 27 doi: 10.1212/WNL.0000000000003042. PMID: 27466475

Recent clinical studies

Etiology

Spatial transcriptomics in focal cortical dysplasia type IIb.
Wang Y, Wang Y, Guo L, Shen C, Fu Y, Wei P, Shan Y, Wu Q, Piao YS, Zhao G
Acta Neuropathol Commun 2024 Nov 30;12(1):185. doi: 10.1186/s40478-024-01897-7. PMID: 39614299Free PMC Article
The clinico-pathological characterisation of focal cortical dysplasia type IIb genetically defined by MTOR mosaicism.
Wang Y, Yu T, Blümcke I, Cai Y, Sun K, Gao R, Wang Y, Fu Y, Wang W, Wang Y, Zhang G, Piao Y
Neuropathol Appl Neurobiol 2023 Feb;49(1):e12874. doi: 10.1111/nan.12874. PMID: 36544434
Multimodal prognostic features of seizure freedom in epilepsy surgery.
Alim-Marvasti A, Vakharia VN, Duncan JS
J Neurol Neurosurg Psychiatry 2022 May;93(5):499-508. Epub 2022 Mar 4 doi: 10.1136/jnnp-2021-327119. PMID: 35246493Free PMC Article
A connectome-based mechanistic model of focal cortical dysplasia.
Hong SJ, Lee HM, Gill R, Crane J, Sziklas V, Bernhardt BC, Bernasconi N, Bernasconi A
Brain 2019 Mar 1;142(3):688-699. doi: 10.1093/brain/awz009. PMID: 30726864Free PMC Article
Failure to detect human papillomavirus in focal cortical dysplasia type IIb.
Shapiro KA, McGuone D, Deshpande V, Sadow PM, Stemmer-Rachamimov A, Staley KJ
Ann Neurol 2015 Jul;78(1):63-7. Epub 2015 May 4 doi: 10.1002/ana.24422. PMID: 25893423

Diagnosis

Multimodal prognostic features of seizure freedom in epilepsy surgery.
Alim-Marvasti A, Vakharia VN, Duncan JS
J Neurol Neurosurg Psychiatry 2022 May;93(5):499-508. Epub 2022 Mar 4 doi: 10.1136/jnnp-2021-327119. PMID: 35246493Free PMC Article
Dysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway.
Shrot S, Hwang M, Stafstrom CE, Huisman TAGM, Soares BP
Neuroradiology 2018 Feb;60(2):137-150. Epub 2017 Dec 26 doi: 10.1007/s00234-017-1961-5. PMID: 29279945
Analysis of Altered Micro RNA Expression Profiles in Focal Cortical Dysplasia IIB.
Li L, Liu CQ, Li TF, Guan YG, Zhou J, Qi XL, Yang YT, Deng JH, Xu ZQ, Luan GM
J Child Neurol 2016 Apr;31(5):613-20. Epub 2015 Oct 6 doi: 10.1177/0883073815609148. PMID: 26442942
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N
Ann Neurol 2015 Sep;78(3):375-86. Epub 2015 Jul 3 doi: 10.1002/ana.24444. PMID: 26018084
Focal cortical dysplasia type IIb: completeness of cortical, not subcortical, resection is necessary for seizure freedom.
Wagner J, Urbach H, Niehusmann P, von Lehe M, Elger CE, Wellmer J
Epilepsia 2011 Aug;52(8):1418-24. Epub 2011 Jul 8 doi: 10.1111/j.1528-1167.2011.03158.x. PMID: 21740420

Therapy

18 F-SynVesT-1 PET in Focal Cortical Dysplasia Type II With Thickening Cortex.
Tang Y, Yu J, Zhou M, Chen C, Hu S
Clin Nucl Med 2022 Aug 1;47(8):741-743. Epub 2022 Apr 5 doi: 10.1097/RLU.0000000000004214. PMID: 35384870

Prognosis

Multimodal prognostic features of seizure freedom in epilepsy surgery.
Alim-Marvasti A, Vakharia VN, Duncan JS
J Neurol Neurosurg Psychiatry 2022 May;93(5):499-508. Epub 2022 Mar 4 doi: 10.1136/jnnp-2021-327119. PMID: 35246493Free PMC Article
Automatic analysis of integrated magnetic resonance and positron emission tomography images improves the accuracy of detection of focal cortical dysplasia type IIb lesions.
Lin Y, Mo J, Jin H, Cao X, Zhao Y, Wu C, Zhang K, Hu W, Lin Z
Eur J Neurosci 2021 May;53(9):3231-3241. Epub 2021 Mar 26 doi: 10.1111/ejn.15185. PMID: 33720464
Downregulated GPR30 expression in the epileptogenic foci of female patients with focal cortical dysplasia type IIb and tuberous sclerosis complex is correlated with (18) F-FDG PET-CT values.
Wang Z, Huang K, Yang X, Shen K, Yang L, Ruan R, Shi X, Wang M, Zhu G, Yang M, Zhang C, Lv S, Yang H, Fan X, Liu S
Brain Pathol 2021 Mar;31(2):346-364. Epub 2021 Feb 10 doi: 10.1111/bpa.12925. PMID: 33314369Free PMC Article
Lesion focused radiofrequency thermocoagulation of bottom-of-sulcus focal cortical dysplasia type IIb: Conceptional considerations with regard to the epileptogenic zone.
Wellmer J
Epilepsy Res 2018 May;142:143-148. Epub 2018 Feb 19 doi: 10.1016/j.eplepsyres.2018.02.009. PMID: 29550061
Focal cortical dysplasia type IIb: completeness of cortical, not subcortical, resection is necessary for seizure freedom.
Wagner J, Urbach H, Niehusmann P, von Lehe M, Elger CE, Wellmer J
Epilepsia 2011 Aug;52(8):1418-24. Epub 2011 Jul 8 doi: 10.1111/j.1528-1167.2011.03158.x. PMID: 21740420

Clinical prediction guides

Downregulated formyl peptide receptor 2 expression in the epileptogenic foci of patients with focal cortical dysplasia type IIb and tuberous sclerosis complex.
Huang K, Wang Z, He Z, Li Y, Li S, Shen K, Zhu G, Liu Z, Lv S, Zhang C, Yang H, Yang X, Liu S
Immun Inflamm Dis 2022 Nov;10(11):e706. doi: 10.1002/iid3.706. PMID: 36301030Free PMC Article
Multimodal prognostic features of seizure freedom in epilepsy surgery.
Alim-Marvasti A, Vakharia VN, Duncan JS
J Neurol Neurosurg Psychiatry 2022 May;93(5):499-508. Epub 2022 Mar 4 doi: 10.1136/jnnp-2021-327119. PMID: 35246493Free PMC Article
Automatic analysis of integrated magnetic resonance and positron emission tomography images improves the accuracy of detection of focal cortical dysplasia type IIb lesions.
Lin Y, Mo J, Jin H, Cao X, Zhao Y, Wu C, Zhang K, Hu W, Lin Z
Eur J Neurosci 2021 May;53(9):3231-3241. Epub 2021 Mar 26 doi: 10.1111/ejn.15185. PMID: 33720464
Downregulated GPR30 expression in the epileptogenic foci of female patients with focal cortical dysplasia type IIb and tuberous sclerosis complex is correlated with (18) F-FDG PET-CT values.
Wang Z, Huang K, Yang X, Shen K, Yang L, Ruan R, Shi X, Wang M, Zhu G, Yang M, Zhang C, Lv S, Yang H, Fan X, Liu S
Brain Pathol 2021 Mar;31(2):346-364. Epub 2021 Feb 10 doi: 10.1111/bpa.12925. PMID: 33314369Free PMC Article
Doublecortin-like (DCL) expression in focal cortical dysplasia and cortical tubers.
Boer K, Lucassen PJ, Spliet WG, Vreugdenhil E, van Rijen PC, Troost D, Jansen FE, Aronica E
Epilepsia 2009 Dec;50(12):2629-37. Epub 2009 Jul 2 doi: 10.1111/j.1528-1167.2009.02191.x. PMID: 19583781

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