scholarly journals Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery

2019 ◽  
Vol 29 (4) ◽  
pp. 473-484 ◽  
Author(s):  
Barbora Benova ◽  
Thomas S. Jacques
Keyword(s):  
Epilepsy Surgery ◽  
Cortical Development ◽  
Pathological Diagnosis ◽  
Malformations Of Cortical Development

Subtraction SPECT Coregistered to MRI in Focal Malformations of Cortical Development: Localization of the Epileptogenic Zone in Epilepsy Surgery Candidates

Epilepsia ◽  
2004 ◽  
Vol 45 (4) ◽  
pp. 367-376 ◽  
Author(s):  
Terence J. O'Brien ◽  
Elson L. So ◽  
Gregory D. Cascino ◽  
Mary F. Hauser ◽  
W. Richard Marsh ◽  
...  
Keyword(s):  
Epilepsy Surgery ◽  
Cortical Development ◽  
Epileptogenic Zone ◽  
Malformations Of Cortical Development

scholarly journals DNA methylation-based classification of malformations of cortical development in the human brain

2021 ◽  
Author(s):  
Samir Jabari ◽  
Katja Kobow ◽  
Tom Pieper ◽  
Till Hartlieb ◽  
Manfred Kudernatsch ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Deep Learning ◽  
Human Brain ◽  
Epilepsy Surgery ◽  
Cortical Development ◽  
Diagnostic Process ◽  
Malformations Of Cortical Development ◽  
Disease Definition ◽  
Ffpe Samples

AbstractMalformations of cortical development (MCD) comprise a broad spectrum of structural brain lesions frequently associated with epilepsy. Disease definition and diagnosis remain challenging and are often prone to arbitrary judgment. Molecular classification of histopathological entities may help rationalize the diagnostic process. We present a retrospective, multi-center analysis of genome-wide DNA methylation from human brain specimens obtained from epilepsy surgery using EPIC 850 K BeadChip arrays. A total of 308 samples were included in the study. In the reference cohort, 239 formalin-fixed and paraffin-embedded (FFPE) tissue samples were histopathologically classified as MCD, including 12 major subtype pathologies. They were compared to 15 FFPE samples from surgical non-MCD cortices and 11 FFPE samples from post-mortem non-epilepsy controls. We applied three different statistical approaches to decipher the DNA methylation pattern of histopathological MCD entities, i.e., pairwise comparison, machine learning, and deep learning algorithms. Our deep learning model, which represented a shallow neuronal network, achieved the highest level of accuracy. A test cohort of 43 independent surgical samples from different epilepsy centers was used to test the precision of our DNA methylation-based MCD classifier. All samples from the test cohort were accurately assigned to their disease classes by the algorithm. These data demonstrate DNA methylation-based MCD classification suitability across major histopathological entities amenable to epilepsy surgery and age groups and will help establish an integrated diagnostic classification scheme for epilepsy-associated MCD.

scholarly journals Malformations of Cortical Development, Cognitive Involvementand Epilepsy: A Single Institution Experience in 19 Young Patients

Children ◽  
2021 ◽  
Vol 8 (8) ◽  
pp. 637
Author(s):  
Valeria Venti ◽  
Maria Chiara Consentino ◽  
Pierluigi Smilari ◽  
Filippo Greco ◽  
Claudia Francesca Oliva ◽  
...  
Keyword(s):  
Clinical Features ◽  
Cortical Development ◽  
Young Patients ◽  
Cortical Dysplasia ◽  
Drug Resistant ◽  
Malformations Of Cortical Development ◽  
Group Iii ◽  
Group I ◽  
Cognitive Involvement ◽  
Group Ii

Background. Malformations of cortical development (MCD) include a wide range of congenital disorders mostly causing severe cognitive dysfunction and epilepsy. Objective: to report on clinical features including cognitive involvement, epileptic seizures with response to antiseizure medications, comorbidities in young patients affected by MCD and followed in a single tertiary hospital. Patients and methods: A retrospective review of the medical records and magnetic resonance images (MRI) of 19 young patients with an age ranging between eight days and fifteen years affected by MCD and admitted to Pediatrics Department University of Catania, Italy from October 2009 and October 2020 were selected. Patients were distinguished in three groups following the Barcovich et al. 2012 classification for MCD: 4 (21%) in Group I; 8 (42%) in Group II; and, and 7 (37%) in Group III. Clinical features and MRI of the patients including cognitive involvement, epilepsy type and response to drugs treatment were analyzed. Results: In Group I, two patients showed cortical dysplasia and two dysembryoplastic neuroepithelial tumors plus focal cortical dysplasia; developmental delay/intellectual disability (DD/ID) was severe in one, moderate in one and absent in two; the type of seizures was in all the cases focal to bilateral tonic-clonic (FBTCs), and drug resistant was found in one case. In Group II, three patients showed neuronal hetero-topias and five had pachygyria-lissencephaly: DD/ID was severe in four, moderate in two, and absent in two; the type of seizure was focal (FS) in five, focal to bilateral tonic-clonic (FBTCs) in two, infantile spasms (IS) in one, and drug resistant was found in three. In Group III, six showed polymicrogyria and one schizencephaly: DD/ID was found severe in five, moderate in two, and the type of seizure was focal (FS) in five, FBTCS in two, and drug resistance was found in three.

scholarly journals Teaching NeuroImages: Brain MRI and FDG-PET in malformations of cortical development and hippocampal hypoplasia

Neurology ◽  
2011 ◽  
Vol 77 (8) ◽  
pp. e47-e47 ◽  
Author(s):  
D. Renard ◽  
G. Castelnovo ◽  
D. Daubin ◽  
L. Collombier ◽  
C. Briere ◽  
...  
Keyword(s):  
Fdg Pet ◽  
Brain Mri ◽  
Cortical Development ◽  
Malformations Of Cortical Development

Heterogeneous epileptogenicity and cortical function within malformations of cortical development: A case report

2006 ◽  
Vol 251 (1-2) ◽  
pp. 129-133
Author(s):  
Masako Kinoshita ◽  
Akio Ikeda ◽  
Junya Taki ◽  
Keiko Usui ◽  
Riki Matsumoto ◽  
...  
Keyword(s):  
Case Report ◽  
Cortical Development ◽  
Malformations Of Cortical Development ◽  
Cortical Function

scholarly journals Malformations of cortical development: current concepts and advanced neuroimaging review

2011 ◽  
Vol 69 (1) ◽  
pp. 130-138 ◽  
Author(s):  
Celi Santos Andrade ◽  
Claudia da Costa Leite
Keyword(s):  
Imaging Techniques ◽  
Cortical Development ◽  
Motor Dysfunction ◽  
Malformations Of Cortical Development ◽  
Neurodevelopmental Delay ◽  
Complex Process ◽  
Magnetic Resonance Imaging Mri ◽  
Specific Disorders ◽  
Patients With Epilepsy ◽  
Work Up

Malformations of cortical development (MCD) result from disruptions in the complex process of the human brain cortex formation and are highly associated to severe epilepsy, neurodevelopmental delay and motor dysfunction. Nowadays, magnetic resonance imaging (MRI) is the cornerstone of the work-up of patients with epilepsy and modern advanced imaging techniques have improved not only our ability to detect and characterize cortical malformations, but also in identifying associated functional abnormalities that are far beyond the structural visualized lesions. Herein, we address the most currently used classifications of MCD and make a concise review of the embryological process of cortical development. Our main goal is to summarize recent advances and new trends in diagnostic imaging techniques concerning MCD. Thereafter, follows a brief discussion of specific disorders and their radiological features.

Sign in / Sign up

Export Citation Format

Share Document