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Isolated focal cortical dysplasia type II(FCORD2)

MedGen UID:
339510
Concept ID:
C1846385
Congenital Abnormality
Synonyms: Cortical dysplasia of Taylor; FCORD2; Focal cortical dysplasia of Taylor; Focal cortical dysplasia type 2; Focal cortical dysplasia type II
SNOMED CT: Focal cortical dysplasia type II (1003461002)
 
Genes (locations): MTOR (1p36.22); TSC1 (9q34.13); TSC2 (16p13.3)
 
HPO: HP:0032051
Monarch Initiative: MONDO:0011818
OMIM®: 607341
Orphanet: ORPHA268994

Definition

Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016). [from OMIM]

Clinical features

From HPO
Hemiparesis
MedGen UID:
6783
Concept ID:
C0018989
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
Focal impaired awareness seizure
MedGen UID:
543022
Concept ID:
C0270834
Disease or Syndrome
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Cortical dysplasia
MedGen UID:
98129
Concept ID:
C0431380
Congenital Abnormality
The presence of developmental dysplasia of the cerebral cortex.
Hemimegalencephaly
MedGen UID:
140910
Concept ID:
C0431391
Finding
Enlargement of all or parts of one cerebral hemisphere.
Isolated focal cortical dysplasia type II
MedGen UID:
339510
Concept ID:
C1846385
Congenital Abnormality
Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016).
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Astrocytosis
MedGen UID:
854483
Concept ID:
C3887640
Pathologic Function
Proliferation of astrocytes in the area of a lesion of the central nervous system.
Focal white matter lesions
MedGen UID:
870499
Concept ID:
C4024946
Finding

Term Hierarchy

Conditions with this feature

Isolated focal cortical dysplasia type II
MedGen UID:
339510
Concept ID:
C1846385
Congenital Abnormality
Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016).
Epilepsy, familial focal, with variable foci 1
MedGen UID:
1641798
Concept ID:
C4551983
Disease or Syndrome
DEPDC5-related epilepsy encompasses a range of epilepsy syndromes, almost all of which are characterized by focal seizures, with seizure onset in a discrete area of the brain. While most individuals with DEPDC5-related epilepsy have a normal brain MRI, some have epilepsy associated with a cortical malformation, usually focal cortical dysplasia. Seizure syndromes include familial focal epilepsy with variable foci (FFEVF), autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), familial mesial temporal lobe epilepsies (FMTLE), autosomal dominant epilepsy with auditory features (ADEAF), and infantile spasms. Although psychomotor development is usually normal, intellectual disability or autism spectrum disorder has been reported in some individuals.

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

Donkels C, Peters M, Fariña Núñez MT, Nakagawa JM, Kirsch M, Vlachos A, Scheiwe C, Schulze-Bonhage A, Prinz M, Beck J, Haas CA
Epilepsia 2020 Jan;61(1):171-184. Epub 2019 Dec 24 doi: 10.1111/epi.16415. PMID: 31872870
Marinowic DR, Majolo F, Sebben AD, da Silva VD, Lopes TG, Paglioli E, Palmini A, Machado DC, da Costa JC
Mol Med Rep 2017 Apr;15(4):2049-2056. Epub 2017 Mar 1 doi: 10.3892/mmr.2017.6264. PMID: 28260047Free PMC Article
Bartolini L, Whitehead MT, Ho CY, Sepeta LN, Oluigbo CO, Havens K, Freilich ER, Schreiber JM, Gaillard WD
Epilepsia 2017 Jan;58(1):113-122. Epub 2016 Nov 16 doi: 10.1111/epi.13615. PMID: 27864929
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
Sarnat HB, Flores-Sarnat L
Brain Dev 2015 Jun;37(6):553-62. Epub 2014 Oct 19 doi: 10.1016/j.braindev.2014.08.010. PMID: 25451314

Diagnosis

Kim JH, Park JH, Lee J, Park JW, Kim HJ, Chang WS, Kim DS, Ju YS, Aronica E, Lee JH
Ann Neurol 2023 Jun;93(6):1082-1093. Epub 2023 Feb 8 doi: 10.1002/ana.26609. PMID: 36700525
Miyata H, Fushimi S, Ota Y, Vinters HV, Adachi K, Nanba E, Akiyama T
Neuropathology 2021 Feb;41(1):58-64. Epub 2020 Nov 12 doi: 10.1111/neup.12700. PMID: 33181865
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
Korsakova MB, Kozlova AB, Arkhipova NA, Shishkina LV, Vorob'ev AN, Sorokin VS, Masherov EL, Melikyan AG
Zh Vopr Neirokhir Im N N Burdenko 2015;79(5):19-27. doi: 10.17116/neiro201579519-27. PMID: 26528609
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

Therapy

Korsakova MB, Kozlova AB, Arkhipova NA, Shishkina LV, Vorob'ev AN, Sorokin VS, Masherov EL, Melikyan AG
Zh Vopr Neirokhir Im N N Burdenko 2015;79(5):19-27. doi: 10.17116/neiro201579519-27. PMID: 26528609

Prognosis

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
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
Blümcke I, Mühlebner A
Clin Neuropathol 2011 Jul-Aug;30(4):164-77. doi: 10.5414/np300398. PMID: 21726501

Clinical prediction guides

Gurkan ZM, Kapar O, Yeni SN, Bilgic B, Gurses C
Turk Neurosurg 2022;32(5):802-811. doi: 10.5137/1019-5149.JTN.36547-21.2. PMID: 35713255
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
Korsakova MB, Kozlova AB, Arkhipova NA, Shishkina LV, Vorob'ev AN, Sorokin VS, Masherov EL, Melikyan AG
Zh Vopr Neirokhir Im N N Burdenko 2015;79(5):19-27. doi: 10.17116/neiro201579519-27. PMID: 26528609
Blümcke I, Mühlebner A
Clin Neuropathol 2011 Jul-Aug;30(4):164-77. doi: 10.5414/np300398. PMID: 21726501
Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl R, Pannek HW, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Blümcke I
Ann Neurol 2002 Jul;52(1):29-37. doi: 10.1002/ana.10251. PMID: 12112044

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