scholarly journals Increased Sylvian fissure angle as early sonographic sign of malformation of cortical development

2019 ◽  
Vol 54 (2) ◽  
pp. 199-206 ◽  
Author(s):  
R. K. Pooh ◽  
M. Machida ◽  
T. Nakamura ◽  
K. Uenishi ◽  
H. Chiyo ◽  
...  
Keyword(s):  
Cortical Development ◽  
Sylvian Fissure ◽  
Malformation Of Cortical Development ◽  
Sonographic Sign

scholarly journals VP25.04: Sylvian fissure evaluation in axial plane as marker of malformation of cortical development

2020 ◽  
Vol 56 (S1) ◽  
pp. 162-163
Author(s):  
M. Perez Cruz ◽  
N. Masoller ◽  
M. Rebollo ◽  
E. Monterde ◽  
G. Casu ◽  
...  
Keyword(s):  
Cortical Development ◽  
Sylvian Fissure ◽  
Axial Plane ◽  
Malformation Of Cortical Development

scholarly journals Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Carla De Angelis ◽  
Alicia B. Byrne ◽  
Rebecca Morrow ◽  
Jinghua Feng ◽  
Thuong Ha ◽  
...  
Keyword(s):  
Cortical Development ◽  
Occipital Cortex ◽  
Compound Heterozygous ◽  
Valuable Insight ◽  
Periventricular Nodular Heterotopia ◽  
Case Presentation ◽  
Malformation Of Cortical Development ◽  
Nodular Heterotopia ◽  
Compound Heterozygous Variants ◽  
Insight Into

Abstract Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH. Case presentation We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus. Conclusion We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.

scholarly journals A case of mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE)

2021 ◽  
Vol 12 (3) ◽  
pp. 93-100
Author(s):  
V. S. Khalilov ◽  
A. N. Kislyakov ◽  
T. V. Basalay ◽  
A. V. Levov ◽  
A. A. Kholin
Keyword(s):  
White Matter ◽  
Frontal Lobe ◽  
Focal Cortical Dysplasia ◽  
Epileptiform Activity ◽  
Cortical Development ◽  
Dynamic Mri ◽  
Subtotal Resection ◽  
Pharmacoresistant Epilepsy ◽  
Malformation Of Cortical Development ◽  
The Right

Recently, in the scientist community of specialists dealing with structural epilepsy, it has been noticed an increasing interest in a special form of cortical development disorder not to be included in the ILAE Classification of the epilepsies the 2017 revision. It is so-called mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE). There are a number of publications devoted to the neuroimaging features of MOGHE, which are possible to distinguish from other epileptogenic substrates in comparisons with clinical/anamnestic data and dynamic observation. Our paper describes the case of a patient under 6 years suffering from pharmacoresistant epilepsy with histologically confirmed MOGHE, and having undergone the procedure of epileptic surgery. MRI showed an increased intensity of the T2/FLAIR signal from the white matter in combination with signs of laminar hyperintensivity, regional sulcation disturbance, smoothness of gray-white matter demarcation in the right frontal lobe. A signal intensification from the white matter with the formation similarity of the «transmantl» sign and further pronounced smoothness of the gray-white matter demarcation was observed on dynamic MRI. These changes were estimated as focal cortical dysplasia. Pre-surgical examination revealed a correlation of epileptiform activity with MRI changes. The subtotal resection of the right frontal lobe and the morphological conclusion established the presence of MOGHE was performed.

scholarly journals In vivo MRI Successfully Reveals the Malformation of Cortical Development in Infant Rats

2020 ◽  
Vol 14 ◽  
Author(s):  
Minyoung Lee ◽  
Eun-Jin Kim ◽  
Dong-Cheol Woo ◽  
Woo-Hyun Shim ◽  
Mi-Sun Yum
Keyword(s):  
Cortical Development ◽  
Infant Rats ◽  
Malformation Of Cortical Development

Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development

2020 ◽  
Vol 103 ◽  
pp. 27-34
Author(s):  
Sangbo Lee ◽  
Se Hee Kim ◽  
Borahm Kim ◽  
Seung-Tae Lee ◽  
Jong Rak Choi ◽  
...  
Keyword(s):  
Cortical Development ◽  
Gene Sequencing ◽  
Clinical Implementation ◽  
Malformation Of Cortical Development ◽  
Targeted Gene Sequencing
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