Hemimegalencephaly associated with drug-resistant epilepsy and a rare molecular genetic alteration in the CPA6 gene: a clinical case

Hemimegalencephaly associated with drug-resistant epilepsy and a rare molecular genetic alteration in the CPA6 gene: a clinical case

Hemimegalencephaly (HME) is one of the extremely rare congenital malformations of cortical development (MCD). It belongs to the MCD group of mTOR-related pathologies and can be the result of various genetic disorders. One of the main clinical manifestations of HME is drug-resistant epilepsy requirin...

Full description

Bibliographic Details
Main Authors:	D. A. Murzaeva, D. A. Sitovskaya, K. A. Sultygova, D. D. Sabanchieva, M. A. Kiseleva, O. P. Verbitskiy, Yu. M. Zabrodskaya
Format:	Article
Language:	Russian
Published:	Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University) 2022-12-01
Series:	Сеченовский вестник
Subjects:	mtor-related pathology malformations of cortical development signaling pathway pi3k/akt/mtor balloon cells dysmorphic neurons whole exome sequencing
Online Access:	https://www.sechenovmedj.com/jour/article/view/728

Similar Items

Activation of the PI3K-AKT-mTOR cascade in uterine leiomyosarcoma: a retrospective study of 31 patients
by: Olga A. Rozonova, et al.
Published: (2021-12-01)

Why Malformations of Cortical Development Cause Epilepsy
by: Alfonso Represa
Published: (2019-03-01)

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly
by: Camila A. B. Garcia, et al.
Published: (2020-03-01)

A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation
by: Shengcai Wang, et al.
Published: (2021-05-01)

PI3K/Akt/mTOR Signaling Pathway in Blood Malignancies—New Therapeutic Possibilities
by: Wojciech Wiese, et al.
Published: (2023-11-01)

Inhibition of poly (ADP-ribose) polymerase 1 in neuron cells might enhance the therapeutic effect of leonurine under cholesterol stimulation
by: Bo Hou, et al.
Published: (2022-03-01)

Glioblastoma Multiforme in a Patient with Isolated Hemimegalencephaly
by: Jan Chrastina, et al.
Published: (2015-06-01)

Rab GTPases: Emerging Oncogenes and Tumor Suppressive Regulators for the Editing of Survival Pathways in Cancer
by: Priya D. Gopal Krishnan, et al.
Published: (2020-01-01)

Autophagy as a Vital Therapy Target for Renal Cell Carcinoma
by: Ying-hua He, et al.
Published: (2021-02-01)

Cerebral ischemia reperfusion injury: from public health perspectives to mechanisms
by: Gulnara Kapanova, et al.
Published: (2022-11-01)

The Importance of the PI3K/AKT/MTOR Pathway in the Progression of Ovarian Cancer
by: Charles N. Landen, et al.
Published: (2013-04-01)

Modulation of the PI3K/Akt/mTOR signaling pathway by probiotics as a fruitful target for orchestrating the immune response
by: Amir Hossein Mohseni, et al.
Published: (2021-01-01)

Novel Library of Selenocompounds as Kinase Modulators
by: Carmen Sanmartín, et al.
Published: (2011-07-01)

The class I PI3K/Akt pathway is critical for cancer cell survival in dogs and offers an opportunity for therapeutic intervention
by: Chen Yu-Ting, et al.
Published: (2012-05-01)

Mesencephalic Astrocyte-Derived Neurotrophic Factor (MANF) Regulates Neurite Outgrowth Through the Activation of Akt/mTOR and Erk/mTOR Signaling Pathways
by: Wen Wen, et al.
Published: (2020-09-01)

Identification and immunophenotype of abnormal cells present in focal cortical dysplasia type IIb
by: Gleice K. Sousa, et al.
Published: (2018-12-01)

Targeting PI3K/Akt/mTOR Pathway by Different Flavonoids: A Cancer Chemopreventive Approach
by: Torki A. Zughaibi, et al.
Published: (2021-11-01)

Does the PI3K pathway promote or antagonise regulatory T cell development and function?
by: Dalya R Soond, et al.
Published: (2012-08-01)

Zika Virus Congenital Syndrome and MTOR gene variants: insights from a family of dizygotic twins
by: Luciana Reboredo de O. da Silva, et al.
Published: (2021-04-01)

The IL-1β system in epilepsy-associated malformations of cortical development
by: T. Ravizza, et al.
Published: (2006-10-01)

Orf virus induces complete autophagy to promote viral replication via inhibition of AKT/mTOR and activation of the ERK1/2/mTOR signalling pathway in OFTu cells
by: Lijun Lv, et al.
Published: (2023-03-01)

Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing
by: Yan Xu, et al.
Published: (2022-12-01)

Recent Advances in Dual PI3K/mTOR Inhibitors for Tumour Treatment
by: Xianbo Wu, et al.
Published: (2022-05-01)

Role of PI3K/Akt/mTOR pathway in mediating endocrine resistance: concept to clinic
by: Aglaia Skolariki, et al.
Published: (2022-04-01)

Activation of the PI3K/AKT/mTOR Pathway in Cajal–Retzius Cells Leads to Their Survival and Increases Susceptibility to Kainate-Induced Seizures
by: Nasim Ramezanidoraki, et al.
Published: (2023-03-01)

Subcellular targeting and dynamic regulation of PTEN: Implications for neuronal cells and neurological disorders
by: Patricia eKreis, et al.
Published: (2014-04-01)

Homogeneous Polyporus polysaccharide exerts anti-bladder cancer effects via autophagy induction
by: Siwan Luo, et al.
Published: (2024-12-01)

The Role of mTOR Signaling as a Therapeutic Target in Cancer
by: Nadezhda V. Popova, et al.
Published: (2021-02-01)

The PI3K-Akt-mTOR Signaling Pathway in Human Acute Myeloid Leukemia (AML) Cells
by: Ina Nepstad, et al.
Published: (2020-04-01)

Roles of PI3K/AKT/mTOR Axis in Arteriovenous Fistula
by: Stefano Ratti, et al.
Published: (2022-02-01)

Inhibition of the AKT/mTOR pathway negatively regulates PTEN expression via miRNAs
by: Wan Linyan, et al.
Published: (2022-10-01)

The effect of aerobic training and eugenol supplementation on the PI3K/AKT/mTOR pathway in skeletal muscle of male rats poisoned with chlorpyrifos
by: Mohadeseh Behnam Moghadam, et al.
Published: (2023-05-01)

The protective effect of Apelin-13 against cardiac hypertrophy through activating the PI3K-AKT-mTOR signaling pathway
by: Yu Peng, et al.
Published: (2023-02-01)

Cyclophosphamide Inhibits PI3K/AKT/mTOR Signaling Pathway in Mice Kidneys
by: Gulsah Albayrak, et al.
Published: (2018-12-01)

Targeting PI3K/Akt/mTOR Signaling In Cancer
by: Camillo ePorta, et al.
Published: (2014-04-01)

Sinomenine inhibits the growth of melanoma by enhancement of autophagy via PI3K/AKT/mTOR inhibition
by: Sun Z, et al.
Published: (2018-08-01)

The Role of PI3K in Met Driven Cancer: A Recap
by: Alexia Hervieu, et al.
Published: (2018-10-01)

Expert consensus on the clinical application of PI3K/AKT/mTOR inhibitors in the treatment of advanced breast cancer
by: The Society of Clinical Research of Oncology Medications of China Anticancer Association, et al.
Published: (2022-06-01)

Acetylshikonin inhibits the migration and invasion of A375 cells by reversing EMT process via the PI3K/Akt/mTOR pathway
by: Shuang Jiang, et al.
Published: (2019-01-01)

AKTivation of the PI3K/AKT/mTOR signaling pathway by KSHV
by: Aadra P Bhatt, et al.
Published: (2013-01-01)