Skip to main content Accessibility help
×
Hostname: page-component-76fb5796d-r6qrq Total loading time: 0 Render date: 2024-04-26T14:20:09.296Z Has data issue: false hasContentIssue false

Chapter 10 - Malformations of Cortical Development as Causes of Medication-Resistant Epilepsy

Published online by Cambridge University Press:  20 August 2020

John M. Stern
Affiliation:
Geffen School of Medicine at UCLA, Los Angeles, CA
Raman Sankar
Affiliation:
Geffen School of Medicine at UCLA, Los Angeles, CA
Michael Sperling
Affiliation:
Jefferson Hospital for Neurosciences, Philadelphia, PA
Get access

Summary

Malformations of cortical development (MCD) are by now well recognized causes of neurodevelopmental disorders and epilepsy [1]. The precise etiological mechanisms, clinical features and course vary as patients present with a wide range of developmental disorders, associated somatic and cortical malformations, and epilepsy. Specific clinical phenotypes can be recognized in a proportion of patients based on common clinical and imaging features. Furthermore, genetic testing allows for specific phenotype–genotype classification. However, as with many genetic disorders, the phenotypic variability is large, presenting a challenge to the diagnosis and clinical management of these patients.

Type
Chapter
Information
Medication-Resistant Epilepsy
Diagnosis and Treatment
, pp. 79 - 86
Publisher: Cambridge University Press
Print publication year: 2020

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Kuzniecky, RI. Malformations of cortical development and epilepsy, part 1: diagnosis and classification scheme. Rev Neurol Dis 2006;3(4):151162Google ScholarPubMed
Barkovich, AJ, Guerrini, R, Kuzniecky, RI, Jackson, GD, Dobyns, WB. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012;135:13481369CrossRefGoogle ScholarPubMed
Guerrini, R, Dobyns, WB. Malformations of cortical development: clinical features and genetic causes. Lancet Neurol 2014;13:710726Google Scholar
Bae, BI, Tietjen, I, Atabay, KD, et al. Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science 2014;343(6172):764768Google Scholar
Jamuar, SS, Lam, AT, Kircher, M, et al. Somatic mutations in cerebral cortical malformations. N Engl J Med 2014;371(8):733743CrossRefGoogle ScholarPubMed
Lee, JH, Huynh, M, Silhavy, JL, et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012;44:941945CrossRefGoogle ScholarPubMed
Marin-Valencia, I, Guerrini, R, Gleeson, JG. Pathogenetic mechanisms of focal cortical dysplasia. Epilepsia 2014;55(7):970978CrossRefGoogle ScholarPubMed
Wang, VY, Chang, EF, Barbaro, NM. Focal cortical dysplasia: a review of pathological features, genetics, and surgical outcome. Neurosurg Focus 2006;20(1):E7Google Scholar
Aronica, E., et al. Differential expression patterns of chloride transporters, Na+–K+–2Cl–cotransporter and K+–Cl–cotransporter, in epilepsy-associated malformations of cortical development. Neuroscience 2007;145(1):185196CrossRefGoogle ScholarPubMed
Rakhade, SN, Jensen, FE. Epileptogenesis in the immature brain: emerging mechanisms. Nat Rev Neurol 2009;5(7):380391CrossRefGoogle ScholarPubMed
André, VM, Wu, N, Yamazaki, I, et al. Cytomegalic interneurons: a new abnormal cell type in severe pediatric cortical dysplasia. J Neuropathol Exp Neurol 2007;66:491504Google Scholar
Crino, PB. Molecular pathogenesis of focal cortical dysplasia and hemimegalencephaly. J Child Neurol 2005;20(4):330336CrossRefGoogle ScholarPubMed
Mirzaa, GM, Conway, RL, Gripp, KW, et al. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A 2012;158A(2):269291Google Scholar
Blumcke, I, Thom, M, Aronica, E, et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 2011;52:158174CrossRefGoogle Scholar
Hsu, PP, Kang, SA, Rameseder, J, et al. The mTOR-regulated phosphoproteome reveals a mechanism of mTORC1-mediated inhibition of growth factor signaling. Science 2011;332:13171322CrossRefGoogle ScholarPubMed
Zhou, J, Blundell, J, Ogawa, S, et al. Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice. J Neurosci 2009;29:17731783CrossRefGoogle ScholarPubMed
Epilepsy Electroclinical Study Group, Ricos, M Hodgson, BL. Pippucci, T, et al. Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Ann Neurol 2016;79(1):120131CrossRefGoogle ScholarPubMed
Romaniello, R, Arrigoni, F, Bassi, MT, Borgatti, R. Mutations in a- and b-tubulin encoding genes: implications in brain malformations. Brain Dev 2014;37(3):273280Google Scholar
Pilz, D, Stoodley, N, Golden, JA. Neuronal migration, cerebral cortical development, and cerebral cortical anomalies. J Neuropathol Exp Neurol 2002;61(1):111CrossRefGoogle ScholarPubMed
Gleeson, JG, Allen, KM, Fox, JW, et al. Doublecortin, a brain-specific gene mutated in human x-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998;92:6372CrossRefGoogle ScholarPubMed
Saillour, Y, Carion, N, Quelin, C, et al. LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. Arch Neurol 2009;66(8):10071015Google Scholar
Morris, EB, 3rd, Parisi, JE, Buchhalter, JR. Histopathologic findings of malformations of cortical development in an epilepsy surgery cohort. Arch Pathol Lab Med 2006;130(8):11631168Google Scholar
Kuzniecky, R, Andermann, F, Guerrini, R. Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. Lancet 1993;341(8845):608612Google Scholar
Jansen, AC, Robitaille, Y, Honavar, M, et al. The histopathology of polymicrogyria: a series of 71 brain autopsy studies. Dev Med Child Neurol 2016;58:3948Google Scholar
Baulac, S, Lenk, GM, Dufresnois, B, et al. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology 2014;82(12):1068-1075CrossRefGoogle ScholarPubMed
De Ciantis, A, Barkovich, AJ, Cosottini, M, et al. Ultra-high-field MR imaging in polymicrogyria and epilepsy. Am J Neuroradiol 2014;36(2):309-316Google Scholar
Caraballo, RH, Cersósimo, RO, Fortini, PS, et al. Congenital hemiparesis, unilateral polymicrogyria and epilepsy with or without status epilepticus during sleep: a study of 66 patients with long-term follow-up. Epileptic Disord 2013;15(4):417427CrossRefGoogle ScholarPubMed
Fox, JW, Lamperti, ED, Ekşioğlu, YZ, et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998;21(6):13151325Google Scholar
Sheen, VL, Topçu, M, Berkovic, S, et al. Autosomal recessive form of periventricular heterotopia. Neurology 2003;60(7):11081112CrossRefGoogle ScholarPubMed
Kielar, M, Tuy, FPD, Bizzotto, S. Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. Nat Neurosci 2014;17(7):923-933CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×