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...

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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

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https://www.sechenovmedj.com/jour/article/view/728

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