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Cerebral malformation due to abnormal neuronal migration

MedGen UID:
831414
•Concept ID:
CN226704
•
Finding
Synonyms: Brain malformation due to abnormal neuronal migration; Non-syndromic cerebral malformation due to abnormal neuronal migration
 
Orphanet: ORPHA163209

Professional guidelines

PubMed

Lissencephaly: Update on diagnostics and clinical management.
Koenig M, Dobyns WB, Di Donato N
Eur J Paediatr Neurol 2021 Nov;35:147-152. Epub 2021 Oct 7 doi: 10.1016/j.ejpn.2021.09.013. PMID: 34731701
Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation.
Cater SW, Boyd BK, Ghate SV
Radiographics 2020 Sep-Oct;40(5):1458-1472. Epub 2020 Jul 24 doi: 10.1148/rg.2020200034. PMID: 32706613
Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review.
Taniguchi-Ikeda M, Morioka I, Iijima K, Toda T
Mol Aspects Med 2016 Oct;51:115-24. Epub 2016 Jul 12 doi: 10.1016/j.mam.2016.07.003. PMID: 27421908

Recent clinical studies

Etiology

Tubulin mutations in human neurodevelopmental disorders.
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB
Semin Cell Dev Biol 2023 Mar 15;137:87-95. Epub 2022 Jul 30 doi: 10.1016/j.semcdb.2022.07.009. PMID: 35915025
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: 35706131Free PMC Article
Focal cortical dysplasia: Updates.
Pinheiro J, Honavar M
Indian J Pathol Microbiol 2022 May;65(Supplement):S189-S197. doi: 10.4103/ijpm.ijpm_1226_21. PMID: 35562149
Malformations of Cerebral Cortex Development: Molecules and Mechanisms.
Juric-Sekhar G, Hevner RF
Annu Rev Pathol 2019 Jan 24;14:293-318. doi: 10.1146/annurev-pathmechdis-012418-012927. PMID: 30677308Free PMC Article
Neuronal Migration Disorders.
Roberts B
Radiol Technol 2018 Jan;89(3):279-295. PMID: 29298944

Diagnosis

Tubulin mutations in human neurodevelopmental disorders.
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB
Semin Cell Dev Biol 2023 Mar 15;137:87-95. Epub 2022 Jul 30 doi: 10.1016/j.semcdb.2022.07.009. PMID: 35915025
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: 35706131Free PMC Article
Focal cortical dysplasia: Updates.
Pinheiro J, Honavar M
Indian J Pathol Microbiol 2022 May;65(Supplement):S189-S197. doi: 10.4103/ijpm.ijpm_1226_21. PMID: 35562149
Lissencephaly: Update on diagnostics and clinical management.
Koenig M, Dobyns WB, Di Donato N
Eur J Paediatr Neurol 2021 Nov;35:147-152. Epub 2021 Oct 7 doi: 10.1016/j.ejpn.2021.09.013. PMID: 34731701
Neuronal Migration Disorders.
Roberts B
Radiol Technol 2018 Jan;89(3):279-295. PMID: 29298944

Therapy

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: 35040598Free PMC Article
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmüller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V
Ann Clin Transl Neurol 2020 May;7(5):757-766. Epub 2020 Apr 28 doi: 10.1002/acn3.51042. PMID: 32342672Free PMC Article
BDNF in fragile X syndrome.
Castrén ML, Castrén E
Neuropharmacology 2014 Jan;76 Pt C:729-36. Epub 2013 May 29 doi: 10.1016/j.neuropharm.2013.05.018. PMID: 23727436
Neonatal hypoxia and seizures.
Gillam-Krakauer M, Carter BS
Pediatr Rev 2012 Sep;33(9):387-96; quiz 397. doi: 10.1542/pir.33-9-387. PMID: 22942364
Neurological manifestations of tuberous sclerosis complex.
Curatolo P
Childs Nerv Syst 1996 Sep;12(9):515-21. doi: 10.1007/BF00261603. PMID: 8906365

Prognosis

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Schröter J, Popp B, Brennenstuhl H, Döring JH, Donze SH, Bijlsma EK, van Haeringen A, Huhle D, Jestaedt L, Merkenschlager A, Arelin M, Gräfe D, Neuser S, Oates S, Pal DK, Parker MJ, Lemke JR, Hoffmann GF, Kölker S, Harting I, Syrbe S
Eur J Hum Genet 2022 Mar;30(3):298-306. Epub 2022 Jan 11 doi: 10.1038/s41431-021-01027-0. PMID: 35017693Free PMC Article
Genetic causes underlying grey matter heterotopia.
Vriend I, Oegema R
Eur J Paediatr Neurol 2021 Nov;35:82-92. Epub 2021 Oct 9 doi: 10.1016/j.ejpn.2021.09.015. PMID: 34666232
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
A journey through formation and malformations of the neo-cortex.
Reghunath A, Ghasi RG
Childs Nerv Syst 2020 Jan;36(1):27-38. Epub 2019 Nov 27 doi: 10.1007/s00381-019-04429-0. PMID: 31776716
Surgical techniques: Stereoelectroencephalography-guided radiofrequency-thermocoagulation (SEEG-guided RF-TC).
Bourdillon P, Rheims S, Catenoix H, Montavont A, Ostrowsky-Coste K, Isnard J, Guénot M
Seizure 2020 Apr;77:64-68. Epub 2019 Jan 25 doi: 10.1016/j.seizure.2019.01.021. PMID: 30711397

Clinical prediction guides

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB
Brain 2022 Sep 14;145(9):3274-3287. doi: 10.1093/brain/awac164. PMID: 35769015Free PMC Article
KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice.
Li W, Cheng T, Dong X, Chen H, Yang L, Qiu Z, Zhou W
Pediatr Res 2022 Oct;92(4):995-1002. Epub 2021 Dec 29 doi: 10.1038/s41390-021-01922-8. PMID: 34966180
Surgical techniques: Stereoelectroencephalography-guided radiofrequency-thermocoagulation (SEEG-guided RF-TC).
Bourdillon P, Rheims S, Catenoix H, Montavont A, Ostrowsky-Coste K, Isnard J, Guénot M
Seizure 2020 Apr;77:64-68. Epub 2019 Jan 25 doi: 10.1016/j.seizure.2019.01.021. PMID: 30711397
Epilepsy in Tubulinopathy: Personal Series and Literature Review.
Romaniello R, Zucca C, Arrigoni F, Bonanni P, Panzeri E, Bassi MT, Borgatti R
Cells 2019 Jul 2;8(7) doi: 10.3390/cells8070669. PMID: 31269740Free PMC Article
Neuronal migration disorders: Focus on the cytoskeleton and epilepsy.
Stouffer MA, Golden JA, Francis F
Neurobiol Dis 2016 Aug;92(Pt A):18-45. Epub 2015 Aug 20 doi: 10.1016/j.nbd.2015.08.003. PMID: 26299390Free PMC Article

Recent systematic reviews

Non-pharmacological treatment options of drug-resistant epilepsy in subcortical band heterotopia: systematic review and illustrative case.
Kurzbuch AR, Cooper B, Israni A, Ellenbogen JR
Childs Nerv Syst 2023 Feb;39(2):451-462. Epub 2022 Aug 6 doi: 10.1007/s00381-022-05638-w. PMID: 35933521
Neuropathology of genetically defined malformations of cortical development-A systematic literature review.
Brock S, Cools F, Jansen AC
Neuropathol Appl Neurobiol 2021 Aug;47(5):585-602. Epub 2021 Feb 14 doi: 10.1111/nan.12696. PMID: 33480109Free PMC Article

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