Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

F Pirozzi, M Berkseth, R Shear, L Gonzalez, AE Timms… - Brain, 2022 - academic.oup.com
Focal malformations of cortical development including focal cortical dysplasia,
hemimegalencephaly and megalencephaly, are a spectrum of neurodevelopmental …

Epileptogenesis and drug-resistant in focal cortical dysplasias: Update on clinical, cellular, and molecular markers

DR Marinowic, DB Pazzin, SPC de Azevedo… - Epilepsy & Behavior, 2024 - Elsevier
Focal cortical dysplasia (FCD) is a cortical malformation in brain development and is
considered as one of the major causes of drug-resistant epilepsies in children and adults …

Roots of the malformations of cortical development in the cell biology of neural progenitor cells

C Ossola, N Kalebic - Frontiers in Neuroscience, 2022 - frontiersin.org
The cerebral cortex is a structure that underlies various brain functions, including cognition
and language. Mammalian cerebral cortex starts developing during the embryonic period …

Pathological networks involving dysmorphic neurons in type II focal cortical dysplasia

Y Shao, Q Ge, J Yang, M Wang, Y Zhou, JX Guo… - Neuroscience …, 2022 - Springer
Focal cortical dysplasia (FCD) is one of the most common causes of drug-resistant epilepsy.
Dysmorphic neurons are the major histopathological feature of type II FCD, but their role in …

Epilepsy in patients with focal cortical dysplasia may be associated with autism spectrum disorder

A Fujimoto, H Enoki, K Niimi, T Nozaki, S Baba… - Epilepsy & Behavior, 2021 - Elsevier
Introduction. Patients with epilepsy associated with focal cortical dysplasia (FCD) may be
associated with autism spectrum disorder (ASD). Therefore, the purpose of this study was to …

[HTML][HTML] Efficacy of the ketogenic diet for pediatric epilepsy according to the presence of detectable somatic mTOR pathway mutations in the brain

A Ko, NS Sim, HS Choi, D Yang… - Journal of Clinical …, 2021 - pmc.ncbi.nlm.nih.gov
Background and Purpose A multifactorial antiepileptic mechanism underlies the ketogenic
diet (KD), and one of the proposed mechanisms of action is that the KD inhibits the …

Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing

Y Xu, R Zhao, M Wang, X Wang, Y Wang… - … Genetics & Genomic …, 2022 - Wiley Online Library
Background Focal cortical dysplasia type 2 (FCD2) is a malformation of cortical development
that constitutes a common cause of pediatric focal epilepsy. Germline or somatic variants in …

Rapamycin Cannot Reduce Seizure Susceptibility in Infantile Rats with Malformations of Cortical Development Lacking mTORC1 Activation

M Lee, EJ Kim, MJ Kim, MS Yum - Molecular Neurobiology, 2022 - Springer
The mechanistic target of the rapamycin (mTOR) pathway is involved in cortical
development. However, the efficacy of mTOR inhibitors in malformations of cortical dysplasia …

Focal cortical dysplasia: Updates

J Pinheiro, M Honavar - Indian Journal of Pathology and …, 2022 - journals.lww.com
Focal cortical dysplasias (FCDs) represent the third most frequent cause of drug-resistant
focal epilepsy in adults (after hippocampal sclerosis and tumours) submitted to surgery, and …

Balloon cells in malformations of cortical development: friends or foes?

Z Liu, X Shen, K Lin, F Wang, J Gao, Y Yao, J Sun - Acta Epileptologica, 2024 - Springer
Balloon cells (BCs) are specific pathological marker of cortical malformations during brain
development, often associated with epilepsy and development delay. Although a large …