Genetic Factors of Reflex Epilepsies

被引：0
|
作者：
Dudko, N. A. [1 ,2 ]
Kunizheva, S. S. [1 ,2 ,3 ]
Andreeva, T. V. [1 ,2 ,3 ]
Adrianova, I. Y. [2 ]
Rogaev, E. I. [1 ,3 ,4 ]
机构：
[1] Sirius Univ Sci & Technol, Ctr Genet & Life Sci, Pgt Sirius 354340, Krasnodar Krai, Russia
[2] Russian Acad Sci, Vavilov Inst Gen Genet, Moscow 119991, Russia
[3] Moscow MV Lomonosov State Univ, Ctr Genet & Genet Technol, Moscow 119234, Russia
[4] UMass Chan Med Sch, Dept Psychiat, Worcester, MA 01545 USA
来源：
RUSSIAN JOURNAL OF GENETICS | 2023年 / 59卷 / 10期
基金：
俄罗斯科学基金会;
关键词：
reflex epilepsy; genetic factors; audiogenic seizures; photosensitivity; hot water epilepsy; AUTOSOMAL-DOMINANT; EPILEPTIC SEIZURES; RARE FORM; MUTATIONS; PHOTOSENSITIVITY; PREVALENCE; DEFINITION; VARIANTS; PROTEIN; STRAIN;
D O I：
10.1134/S1022795423100046
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Reflex epilepsy is a relatively rare form of epilepsy, occurring only in five percent of all cases of this disease. The genetic factors of reflex epilepsy are diverse and, in general, poorly studied. This review examines the main results obtained in recent years in the study of molecular genetic factors of reflex epilepsy, including new data on the mechanisms of genetic regulation in reflex epilepsy caused by triggers such as audio and video stimulation, food consumption, reading, contact with water, and hypoxia. The results obtained in studies on animal models and patients using next-generation sequencing technology are presented.
引用
收藏
页码：991 / 1003
页数：13
相关论文
共 50 条
  • [31] Reflex epilepsy: triggers and management strategies
    Okudan, Zeynep Vildan
    Ozkara, Cigdem
    NEUROPSYCHIATRIC DISEASE AND TREATMENT, 2018, 14 : 327 - 337
  • [32] CDKL5 deficiency disorder and other infantile-onset genetic epilepsies
    Daniels, Carolyn
    Greene, Caitlin
    Smith, Lacey
    Pestana-Knight, Elia
    Demarest, Scott
    Zhang, Bo
    Benke, Timothy A.
    Poduri, Annapurna
    Olson, Heather E.
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2024, 66 (04) : 456 - 468
  • [33] Rare gene deletions in genetic generalized and Rolandic epilepsies
    Jabbari, Kamel
    Bobbili, Dheeraj R.
    Lal, Dennis
    Reinthaler, Eva M.
    Schubert, Julian
    Wolking, Stefan
    Sinha, Vishal
    Motameny, Susanne
    Thiele, Holger
    Kawalia, Amit
    Altmueller, Janine
    Toliat, Mohammad Reza
    Kraaij, Robert
    van Rooij, Jeroen
    Uitterlinden, Andre G.
    Ikram, M. Arfan
    Zara, Federico
    Lehesjoki, Anna-Elina
    Krause, Roland
    Zimprich, Fritz
    Sander, Thomas
    Neubauer, Bernd A.
    May, Patrick
    Lerche, Holger
    Nuernberg, Peter
    PLOS ONE, 2018, 13 (08):
  • [34] Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies
    Haviland, Isabel
    Daniels, Carolyn I.
    Greene, Caitlin A.
    Drew, Jacqueline
    Love-Nichols, Jamie A.
    Swanson, Lindsay C.
    Smith, Lacey
    Nie, Duyu A.
    Benke, Timothy
    Sheidley, Beth R.
    Zhang, Bo
    Poduri, Annapurna
    Olson, Heather E.
    PEDIATRIC NEUROLOGY, 2023, 138 : 71 - 80
  • [35] Gene Editing and Modulation: the Holy Grail for the Genetic Epilepsies?
    Carpenter, Jenna C.
    Lignani, Gabriele
    NEUROTHERAPEUTICS, 2021, 18 (03) : 1515 - 1523
  • [36] Epilepsy with Eyelid myoclonias - A diagnosis concealed in other genetic generalized epilepsies with photoparoxysmal response
    Zawar, Ifrah
    Toribio, Martha Gudalupe Garcia
    Xu, Xiaowei
    Alnakhli, Rawyah Saleh
    Benech, Daniela
    Valappil, Ahsan Moosa Naduvil
    Wyllie, Elaine
    Burgess, Richard
    Kotagal, Prakash
    Lachhwani, Deepak
    Gupta, Ajay
    Knight, Elia Pestana
    EPILEPSY RESEARCH, 2022, 181
  • [37] The role of common genetic variation in presumed monogenic epilepsies
    Campbell, Ciaran
    Leu, Costin
    Feng, Yen-Chen Anne
    Wolking, Stefan
    Moreau, Claudia
    Ellis, Colin
    Ganesan, Shiva
    Martins, Helena
    Oliver, Karen
    Boothman, Isabelle
    Benson, Katherine
    Molloy, Anne
    Brody, Lawrence
    Michaud, Jacques L.
    Hamdan, Fadi F.
    Minassian, Berge A.
    Lerche, Holger
    Scheffer, Ingrid E.
    Sisodiya, Sanjay
    Girard, Simon
    Cosette, Patrick
    Delanty, Norman
    Lal, Dennis
    Cavalleri, Gianpiero L.
    EBIOMEDICINE, 2022, 81
  • [38] Solving the unsolved genetic epilepsies: Current and future perspectives
    Johannesen, Katrine M.
    Tumer, Zeynep
    Weckhuysen, Sarah
    Barakat, Tahsin Stefan
    Bayat, Allan
    EPILEPSIA, 2023, 64 (12) : 3143 - 3154
  • [39] Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies
    Kang, Jing-Qiong
    EPILEPSY RESEARCH, 2017, 137 : 9 - 18
  • [40] Monogenic Epilepsies: Channelopathies, Synaptopathies, mTorpathies, and Otheropathies
    Pratico, Andrea D.
    Falsaperla, Raffaele
    Polizzi, Agata
    Ruggieri, Martino
    JOURNAL OF PEDIATRIC NEUROLOGY, 2023, 21 (03) : 146 - 154
12345