RELN gene-related drug-resistant epilepsy with periventricular nodular heterotopia treated with radiofrequency thermocoagulation: a case report

被引:0
作者
Li, Zijian [1 ]
Wang, Fuli [1 ]
He, Zhidong [2 ]
Guo, Qi [1 ]
Zhang, Jinnan [2 ]
Liu, Songyan [1 ]
机构
[1] Jilin Univ, China Japan Union Hosp, Dept Neurol, Changchun, Peoples R China
[2] Jilin Univ, China Japan Union Hosp, Dept Neurosurg, Changchun, Peoples R China
关键词
RELN gene; periventricular nodular heterotopia; radiofrequency thermocoagulation; stereoelectroencephalography; drug-resistant epilepsy; MUTATIONS CAUSE; REELIN; SPECTRUM; MALFORMATIONS;
D O I
10.3389/fneur.2024.1366776
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
An increasing number of gene mutations associated with epilepsy have been identified, some linked to gray matter heterotopia-a common cause of drug-resistant epilepsy. Current research suggests that gene mutation-associated epilepsy should not be considered a contraindication for surgery in epilepsy patients. At present, stereoelectroencephalography-guided radiofrequency thermocoagulation is an important method to treat periventricular nodular heterotopia-associated drug-resistant epilepsy. We present a case of drug-resistant epilepsy, accompanied by periventricular nodular heterotopia and a heterozygous mutation of the RELN gene, successfully treated with radiofrequency thermocoagulation, resulting in a favorable outcome.
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页数:6
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共 25 条
[1]   Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly [J].
Alcantara, Diana ;
Timms, Andrew E. ;
Gripp, Karen ;
Baker, Laura ;
Park, Kaylee ;
Collins, Sarah ;
Cheng, Chi ;
Stewart, Fiona ;
Mehta, Sarju G. ;
Saggar, Anand ;
Sztriha, Laszlo ;
Zombor, Melinda ;
Caluseriu, Oana ;
Mesterman, Ronit ;
Van Allen, Margot I. ;
Jacquinet, Adeline ;
Ygberg, Sofia ;
Bernstein, Jonathan A. ;
Wenger, Aaron M. ;
Guturu, Harendra ;
Bejerano, Gill ;
Gomez-Ospina, Natalia ;
Lehman, Anna ;
Alfei, Enrico ;
Pantaleoni, Chiara ;
Conti, Valerio ;
Guerrini, Renzo ;
Moog, Ute ;
Graham, John M., Jr. ;
Hevner, Robert ;
Dobyns, William B. ;
O'Driscoll, Mark ;
Mirzaa, Ghayda M. .
BRAIN, 2017, 140 :2610-2622
[2]   Stereo-electroencephalography-guided radiofrequency thermocoagulation in patients with focal epilepsy: A systematic review and meta-analysis [J].
Bourdillon, Pierre ;
Cucherat, Michel ;
Isnard, Jean ;
Ostrowsky-Coste, Karine ;
Catenoix, Helene ;
Guenot, Marc ;
Rheims, Sylvain .
EPILEPSIA, 2018, 59 (12) :2296-2304
[3]   RF-ablation in periventricular heterotopia-related epilepsy [J].
Cossu, Massimo ;
Mirandola, Laura ;
Tassi, Laura .
EPILEPSY RESEARCH, 2018, 142 :121-125
[4]   Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy [J].
Dazzo, Emanuela ;
Fanciulli, Manuela ;
Serioli, Elena ;
Minervini, Giovanni ;
Pulitano, Patrizia ;
Binelli, Simona ;
Di Bonaventura, Carlo ;
Luisi, Concetta ;
Pasini, Elena ;
Striano, Salvatore ;
Striano, Pasquale ;
Coppola, Giangennaro ;
Chiavegato, Angela ;
Radovic, Slobodanka ;
Spadotto, Alessandro ;
Uzzau, Sergio ;
La Neve, Angela ;
Giallonardo, Anna Teresa ;
Mecarelli, Oriano ;
Tosatto, Silvio C. E. ;
Ottman, Ruth ;
Michelucci, Roberto ;
Nobile, Carlo .
AMERICAN JOURNAL OF HUMAN GENETICS, 2015, 96 (06) :992-1000
[5]   Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders [J].
Di Donato, Nataliya ;
Guerrini, Renzo ;
Billington, Charles J., Jr. ;
Barkovich, A. James ;
Dinkel, Philine ;
Freri, Elena ;
Heide, Michael ;
Gershon, Elliot S. ;
Gertler, Tracy S. ;
Hopkin, Robert J. ;
Jacob, Suma ;
Keedy, Sarah K. ;
Kooshavar, Daniz ;
Lockhart, Paul J. ;
Lohmann, Dietmar R. ;
Mahmoud, Iman G. ;
Parrini, Elena ;
Schrock, Evelin ;
Severi, Giulia ;
Timms, Andrew E. ;
Webster, Richard, I ;
Willis, Mary J. H. ;
Zaki, Maha S. ;
Gleeson, Joseph G. ;
Leventer, Richard J. ;
Dobyns, William B. .
BRAIN, 2022, 145 (09) :3274-3287
[6]   REELIN, NEURONAL POLARITY AND PROCESS ORIENTATION OF CORTICAL NEURONS [J].
Foerster, E. .
NEUROSCIENCE, 2014, 269 :102-111
[7]   Malformations of cortical development: clinical features and genetic causes [J].
Guerrini, Renzo ;
Dobyns, William B. .
LANCET NEUROLOGY, 2014, 13 (07) :710-726
[8]   De novo and inherited private variants in MAP1B in periventricular nodular heterotopia [J].
Heinzen, Erin L. ;
O'Neill, Adam C. ;
Zhu, Xiaolin ;
Allen, Andrew S. ;
Bahlo, Melanie ;
Chelly, Jamel ;
Chen, Ming Hui ;
Dobyns, William B. ;
Freytag, Saskia ;
Guerrini, Renzo ;
Leventer, Richard J. ;
Poduri, Annapurna ;
Robertson, Stephen P. ;
Walsh, Christopher A. ;
Zhang, Mengqi .
PLOS GENETICS, 2018, 14 (05)
[9]   PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia [J].
Jansen, Laura A. ;
Mirzaa, Ghayda M. ;
Ishak, Gisele E. ;
O'Roak, Brian J. ;
Hiatt, Joseph B. ;
Roden, William H. ;
Gunter, Sonya A. ;
Christian, Susan L. ;
Collins, Sarah ;
Adams, Carissa ;
Riviere, Jean-Baptiste ;
St-Onge, Judith ;
Ojemann, Jeffrey G. ;
Shendure, Jay ;
Hevner, Robert F. ;
Dobyns, William B. .
BRAIN, 2015, 138 :1613-1628
[10]   Reelin Functions, Mechanisms of Action and Signaling Pathways During Brain Development and Maturation [J].
Jossin, Yves .
BIOMOLECULES, 2020, 10 (06)