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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

Recent clinical studies

Etiology

Pinheiro J, Honavar M
Indian J Pathol Microbiol 2022 May;65(Supplement):S189-S197. doi: 10.4103/ijpm.ijpm_1226_21. PMID: 35562149
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
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
Hauptman JS, Mathern GW
Epilepsia 2012 Sep;53 Suppl 4:98-104. doi: 10.1111/j.1528-1167.2012.03619.x. PMID: 22946727
Tassi L, Garbelli R, Colombo N, Bramerio M, Lo Russo G, Deleo F, Milesi G, Spreafico R
Epileptic Disord 2010 Sep;12(3):181-91. Epub 2010 Jul 27 doi: 10.1684/epd.2010.0327. PMID: 20659869

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
Pinheiro J, Honavar M
Indian J Pathol Microbiol 2022 May;65(Supplement):S189-S197. doi: 10.4103/ijpm.ijpm_1226_21. PMID: 35562149
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
Hauptman JS, Mathern GW
Epilepsia 2012 Sep;53 Suppl 4:98-104. doi: 10.1111/j.1528-1167.2012.03619.x. PMID: 22946727
Tassi L, Garbelli R, Colombo N, Bramerio M, Lo Russo G, Deleo F, Milesi G, Spreafico R
Epileptic Disord 2010 Sep;12(3):181-91. Epub 2010 Jul 27 doi: 10.1684/epd.2010.0327. PMID: 20659869

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
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

Esteso Orduña B, Fournier Del Castillo MC, Cámara Barrio S, García Fernández M, Andrés Esteban EM, Álvarez-Linera Prado J, Budke M, Maldonado Belmonte MJ, González Marqués J, Pérez Jiménez MÁ
Epilepsy Behav 2021 Apr;117:107808. Epub 2021 Feb 25 doi: 10.1016/j.yebeh.2021.107808. PMID: 33640566
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
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
Kim DW, Kim S, Park SH, Chung CK, Lee SK
Seizure 2012 Dec;21(10):789-94. Epub 2012 Oct 4 doi: 10.1016/j.seizure.2012.09.006. PMID: 23040369
Rowland NC, Englot DJ, Cage TA, Sughrue ME, Barbaro NM, Chang EF
J Neurosurg 2012 May;116(5):1035-41. Epub 2012 Feb 10 doi: 10.3171/2012.1.JNS111105. PMID: 22324422

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
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
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
Rowland NC, Englot DJ, Cage TA, Sughrue ME, Barbaro NM, Chang EF
J Neurosurg 2012 May;116(5):1035-41. Epub 2012 Feb 10 doi: 10.3171/2012.1.JNS111105. PMID: 22324422
Tassi L, Garbelli R, Colombo N, Bramerio M, Lo Russo G, Deleo F, Milesi G, Spreafico R
Epileptic Disord 2010 Sep;12(3):181-91. Epub 2010 Jul 27 doi: 10.1684/epd.2010.0327. PMID: 20659869

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