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Cerebral malformation due to abnormal neuronal migration

MedGen UID:
1842488
•Concept ID:
C5679571
•
Congenital Abnormality
Synonyms: Brain malformation due to abnormal neuronal migration; Non-syndromic cerebral malformation due to abnormal neuronal migration
 
Orphanet: ORPHA163209

Professional guidelines

PubMed

Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.
Ko YJ, Cho A, Kim WJ, Kim SY, Lim BC, Kim H, Hwang H, Choi JE, Kim KJ, Chae JH
Neuromuscul Disord 2023 May;33(5):425-431. Epub 2023 Mar 23 doi: 10.1016/j.nmd.2023.03.009. PMID: 37087885
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

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
Neuronal Migration Disorders.
Roberts B
Radiol Technol 2018 Jan;89(3):279-295. PMID: 29298944
Neuronal migration disorders.
Guerrini R, Parrini E
Neurobiol Dis 2010 May;38(2):154-66. Epub 2009 Feb 23 doi: 10.1016/j.nbd.2009.02.008. PMID: 19245832

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

Endophthalmitis Following Inadvertent Intraocular Botulinum Toxin A Injection.
AlBalawi AA, Arevalo JF, Abodarahim AM, Alyousif NA, Hazzazi MA
J Pediatr Ophthalmol Strabismus 2023 Mar-Apr;60(2):e8-e10. Epub 2023 Mar 1 doi: 10.3928/01913913-20221229-02. PMID: 36975116
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
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

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
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B
Orphanet J Rare Dis 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. PMID: 30744660Free PMC Article

Clinical prediction guides

KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Almannai M, AlAbdi L, Maddirevula S, Alotaibi M, Alsaleem BM, Aljadhai YI, Alsaif HS, Abukhalid M, Alkuraya FS
Hum Genet 2023 Mar;142(3):399-405. Epub 2022 Dec 23 doi: 10.1007/s00439-022-02513-1. PMID: 36564622
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
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
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B
Orphanet J Rare Dis 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. PMID: 30744660Free 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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