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Malformations of Cortical Development, Group I

MedGen UID:: 827134
•Concept ID:: C3850040
•: Congenital Abnormality

Synonyms:

Abnormal Proliferation Cortical Malformations; Cortical Malformations, Group I; Malformations Due to Abnormal Neuronal and Glial Proliferation or Apoptosis; Malformations Secondary to Abnormal Neuronal and Glial Proliferation or Apoptosis

Definition

Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells. [from MeSH]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMalformations of Cortical Development, Group I

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Abnormality of the nervous system
        Malformation of cortical development
        Malformations of Cortical Development, Group I
        Isolated congenital microcephaly
        Autosomal dominant primary microcephaly
        Autosomal recessive primary microcephaly
        Microcephalic primordial dwarfism due to ZNF335 deficiency
        Microcephaly 1, primary, autosomal recessive
        Microcephaly 11, primary, autosomal recessive
        Microcephaly 12, primary, autosomal recessive
        Microcephaly 13, primary, autosomal recessive
        Microcephaly 14, primary, autosomal recessive
        Microcephaly 15, primary, autosomal recessive
        Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
        Microcephaly 3, primary, autosomal recessive
        Microcephaly 4, primary, autosomal recessive
        Microcephaly 5, primary, autosomal recessive
        Microcephaly 6, primary, autosomal recessive
        Microcephaly 7, primary, autosomal recessive
        Microcephaly 8, primary, autosomal recessive
        Microcephaly 9, primary, autosomal recessive
        Porencephaly
        Acquired porencephaly
        Familial porencephaly
        Primary microcephaly
        Megalencephaly
        Acquired Macrocephaly
        Dysplastic megalencephaly
        Hemimegalencephaly
        Isolated megalencephaly
        Macrocephaly at birth
        Tuberous sclerosis syndrome
        Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
        Tuberous sclerosis 1
        Tuberous sclerosis 2

Professional guidelines

PubMed

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110

Focal cortical dysplasia: an update on diagnosis and treatment.

Guerrini R, Barba C
Expert Rev Neurother 2021 Nov;21(11):1213-1224. Epub 2021 Apr 25 doi: 10.1080/14737175.2021.1915135. PMID: 33834938

Tuberous sclerosis complex: review based on new diagnostic criteria.

Portocarrero LKL, Quental KN, Samorano LP, Oliveira ZNP, Rivitti-Machado MCDM
An Bras Dermatol 2018 Jun;93(3):323-331. doi: 10.1590/abd1806-4841.20186972. PMID: 29924239 Free PMC Article

See all (387)

Recent clinical studies

Etiology

SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE.

Elziny S, Crino PB, Winawer M
Neurobiol Dis 2023 Oct 15;187:106299. Epub 2023 Sep 20 doi: 10.1016/j.nbd.2023.106299. PMID: 37739137 Free PMC Article

The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission.

Najm I, Lal D, Alonso Vanegas M, Cendes F, Lopes-Cendes I, Palmini A, Paglioli E, Sarnat HB, Walsh CA, Wiebe S, Aronica E, Baulac S, Coras R, Kobow K, Cross JH, Garbelli R, Holthausen H, Rössler K, Thom M, El-Osta A, Lee JH, Miyata H, Guerrini R, Piao YS, Zhou D, Blümcke I
Epilepsia 2022 Aug;63(8):1899-1919. Epub 2022 Jun 15 doi: 10.1111/epi.17301. PMID: 35706131 Free PMC Article

MRI of focal cortical dysplasia.

Urbach H, Kellner E, Kremers N, Blümcke I, Demerath T
Neuroradiology 2022 Mar;64(3):443-452. Epub 2021 Nov 27 doi: 10.1007/s00234-021-02865-x. PMID: 34839379 Free PMC Article

Focal cortical dysplasia type 1.

Coras R, Holthausen H, Sarnat HB
Brain Pathol 2021 Jul;31(4):e12964. doi: 10.1111/bpa.12964. PMID: 34196986 Free PMC Article

Genetics and mechanisms leading to human cortical malformations.

Romero DM, Bahi-Buisson N, Francis F
Semin Cell Dev Biol 2018 Apr;76:33-75. Epub 2017 Oct 11 doi: 10.1016/j.semcdb.2017.09.031. PMID: 28951247

See all (211)

Diagnosis

The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission.

Focal cortical dysplasia type 1.

Coras R, Holthausen H, Sarnat HB
Brain Pathol 2021 Jul;31(4):e12964. doi: 10.1111/bpa.12964. PMID: 34196986 Free PMC Article

Anatomical Variations, Mimics, and Pitfalls in Imaging of Patients with Epilepsy.

Hassankhani A, Stein JM, Haboosheh AG, Vossough A, Loevner LA, Nabavizadeh SA
J Neuroimaging 2021 Jan;31(1):20-34. Epub 2020 Dec 13 doi: 10.1111/jon.12809. PMID: 33314527

MTOR pathway in focal cortical dysplasia type 2: What do we know?

Majolo F, Marinowic DR, Machado DC, Da Costa JC
Epilepsy Behav 2018 Aug;85:157-163. Epub 2018 Jun 23 doi: 10.1016/j.yebeh.2018.05.014. PMID: 29945038

Trends in epilepsy surgery: stable surgical numbers despite increasing presurgical volumes.

Cloppenborg T, May TW, Blümcke I, Grewe P, Hopf LJ, Kalbhenn T, Pfäfflin M, Polster T, Schulz R, Woermann FG, Bien CG
J Neurol Neurosurg Psychiatry 2016 Dec;87(12):1322-1329. Epub 2016 Oct 5 doi: 10.1136/jnnp-2016-313831. PMID: 27707870

See all (81)

Therapy

A case of focal cortical dysplasia type IIa with pathologically suspected bilateral Rasmussen syndrome.

Fukuoka M, Kuki I, Hattori Y, Tsuji H, Horino A, Nukui M, Inoue T, Okazaki S, Kawawaki H, Kunihiro N, Uda T, Inoue T, Takahashi Y
Brain Dev 2022 Jun;44(6):401-404. Epub 2022 Feb 28 doi: 10.1016/j.braindev.2022.02.003. PMID: 35241305

Sirolimus for epileptic seizures associated with focal cortical dysplasia type II.

Kato M, Kada A, Shiraishi H, Tohyama J, Nakagawa E, Takahashi Y, Akiyama T, Kakita A, Miyake N, Fujita A, Saito AM, Inoue Y
Ann Clin Transl Neurol 2022 Feb;9(2):181-192. Epub 2022 Jan 18 doi: 10.1002/acn3.51505. PMID: 35040598 Free PMC Article

A Single-Arm Open-Label Clinical Trial on the Efficacy and Safety of Sirolimus for Epileptic Seizures Associated with Focal Cortical Dysplasia Type II: A Study Protocol.

Kada A, Tohyama J, Shiraishi H, Takahashi Y, Nakagawa E, Akiyama T, Saito AM, Inoue Y, Kato M
Kurume Med J 2021 Jul 21;66(2):115-120. Epub 2021 Jun 15 doi: 10.2739/kurumemedj.MS662007. PMID: 34135202

Task-induced gamma band effect in type II focal cortical dysplasia: An exploratory study.

Souci S, Petton M, Jung J, Bourdillon P, Bouet R, Richard-Mornas A, Streichenberger N, Catenoix H, Montavont A, Isnard J, Guenot M, Kahane P, Lachaux JP, Rheims S
Epilepsy Behav 2018 Aug;85:76-84. Epub 2018 Jun 14 doi: 10.1016/j.yebeh.2018.05.017. PMID: 29909256

Comparison of electrocorticographic patterns with focal cortical dysplasia types in children with epilepsy.

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

See all (15)

Prognosis

Anatomical Variations, Mimics, and Pitfalls in Imaging of Patients with Epilepsy.

Hassankhani A, Stein JM, Haboosheh AG, Vossough A, Loevner LA, Nabavizadeh SA
J Neuroimaging 2021 Jan;31(1):20-34. Epub 2020 Dec 13 doi: 10.1111/jon.12809. PMID: 33314527

Focal Cortical Dysplasia and Refractory Epilepsy: Role of Multimodality Imaging and Outcome of Surgery.

Jayalakshmi S, Nanda SK, Vooturi S, Vadapalli R, Sudhakar P, Madigubba S, Panigrahi M
AJNR Am J Neuroradiol 2019 May;40(5):892-898. Epub 2019 Apr 18 doi: 10.3174/ajnr.A6041. PMID: 31000525 Free PMC Article

Epilepsy surgery for focal cortical dysplasia: Seizure and quality of life (QOLIE-89) outcomes.

Chaturvedi J, Rao MB, Arivazhagan A, Sinha S, Mahadevan A, Chowdary MR, Raghavendra K, Shreedhara AS, Pruthi N, Saini J, Bharath RD, Rajeswaran J, Satishchandra P
Neurol India 2018 Nov-Dec;66(6):1655-1666. doi: 10.4103/0028-3886.246263. PMID: 30504559

Challenges in managing epilepsy associated with focal cortical dysplasia in children.

Wong-Kisiel LC, Blauwblomme T, Ho ML, Boddaert N, Parisi J, Wirrell E, Nabbout R
Epilepsy Res 2018 Sep;145:1-17. Epub 2018 May 14 doi: 10.1016/j.eplepsyres.2018.05.006. PMID: 29803953

Trends in epilepsy surgery: stable surgical numbers despite increasing presurgical volumes.

See all (37)

Clinical prediction guides

Identifying cellular markers of focal cortical dysplasia type II with cell-type deconvolution and single-cell signatures.

Galvão IC, Kandratavicius L, Messias LA, Athié MCP, Assis-Mendonça GR, Alvim MKM, Ghizoni E, Tedeschi H, Yasuda CL, Cendes F, Vieira AS, Rogerio F, Lopes-Cendes I, Veiga DFT
Sci Rep 2023 Aug 16;13(1):13321. doi: 10.1038/s41598-023-40240-3. PMID: 37587190 Free PMC Article

Aberrant adenosine signaling in patients with focal cortical dysplasia.

Guo M, Zhang J, Wang J, Wang X, Gao Q, Tang C, Deng J, Xiong Z, Kong X, Guan Y, Zhou J, Boison D, Luan G, Li T
Mol Neurobiol 2023 Aug;60(8):4396-4417. Epub 2023 Apr 27 doi: 10.1007/s12035-023-03351-6. PMID: 37103687 Free PMC Article

Focal Cortical Dysplasia and Refractory Epilepsy: Role of Multimodality Imaging and Outcome of Surgery.

The spectrum of structural and functional network alterations in malformations of cortical development.

Hong SJ, Bernhardt BC, Gill RS, Bernasconi N, Bernasconi A
Brain 2017 Aug 1;140(8):2133-2143. doi: 10.1093/brain/awx145. PMID: 28899007

Dysregulation of the (immuno)proteasome pathway in malformations of cortical development.

van Scheppingen J, Broekaart DW, Scholl T, Zuidberg MR, Anink JJ, Spliet WG, van Rijen PC, Czech T, Hainfellner JA, Feucht M, Mühlebner A, van Vliet EA, Aronica E
J Neuroinflammation 2016 Aug 26;13(1):202. doi: 10.1186/s12974-016-0662-z. PMID: 27566410 Free PMC Article

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