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目的:分析81例最终接受手术治疗的顽固性癫痫患者发病特点,了解不同分类癫痫的发病规律。方法:对81例最终接受手术治疗的顽固性癫痫患者进行分类,分析性别、发病年龄、病程、发作频率等与癫痫分类间的关系。结果:81例患者的男女比例为1.45:1,男性的平均发病年龄为13.6,女性为14.3,强直阵挛发作的耐受病程最短,平均为5.8年,大多数患者在20岁以前发病。结论:多种癫痫发作分类在性别、发病年龄、病程、发作频率上存在差异。 相似文献
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Carolina Courage Karen L. Oliver Eon Joo Park Jillian M. Cameron Kariona A. Grabińska Mikko Muona Laura Canafoglia Antonio Gambardella Edith Said Zaid Afawi Betul Baykan Christian Brandt Carlo di Bonaventura Hui Bein Chew Chiara Criscuolo Leanne M. Dibbens Barbara Castellotti Patrizia Riguzzi Anna-Elina Lehesjoki 《American journal of human genetics》2021,108(4):722-738
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Kathleen M. Gorman Esther Meyer Detelina Grozeva Egidio Spinelli Amy McTague Alba Sanchis-Juan Keren J. Carss Emily Bryant Adi Reich Amy L. Schneider Ronit M. Pressler Michael A. Simpson Geoff D. Debelle Evangeline Wassmer Jenny Morton Diana Sieciechowicz Eric Jan-Kamsteeg Alex R. Paciorkowski Manju A. Kurian 《American journal of human genetics》2019,104(5):948-956
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Andrew E. Fry Christopher Marra Anna V. Derrick William O. Pickrell Adam T. Higgins Johann te Water Naude Martin A. McClatchey Sally J. Davies Kay A. Metcalfe Hui Jeen Tan Rajiv Mohanraj Shivaram Avula Denise Williams Lauren I. Brady Ronit Mesterman Mark A. Tarnopolsky Yuehua Zhang Ying Yang Seo-Kyung Chung 《American journal of human genetics》2021,108(1):176-185
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Lauren E. Bleakley;Christopher A. Reid; 《Journal of neurochemistry》2024,168(12):3891-3910
Pathogenic variation in HCN1 is now an established cause of epilepsy and intellectual disability. Variation in HCN1 causes a spectrum of disease with a genotype–phenotype relationship emerging. De novo pathogenic variants that occur in the transmembrane domains of the channel typically cause a cation ‘leak’ that associates with severe developmental and epileptic encephalopathy (DEE). Genotype–phenotype associations for variants that fall outside of the transmembrane domains are less well established but do include milder forms of epilepsy that can be either de novo or inherited. HCN1 DEE mouse models have been generated which recapitulate the seizures and learning difficulties seen in human patients. These mice have also acted as powerful preclinical models which share pharmacoresponsiveness with human HCN1 DEE patients. Data from these mouse models support the conclusion that anti-seizure medications with sodium channel block as their primary mechanism of action should be used with caution in HCN1 DEE. Other comorbidities of HCN1 DEE including retinal dysfunction have also been modelled in HCN1 DEE mice, suggesting HCN1 variants can cause a dramatically reduced sensitivity to light with limited ability to process temporal information. Our understanding of the genetics and pathophysiological mechanisms underlying HCN1 epilepsy has progressed significantly and is already influencing therapy. However, more research effort is needed to fully understand the natural histories of HCN1 epilepsies and to develop precision therapeutic approaches. 相似文献
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Epilepsy is a common neurological disorder affecting approximately 1% of the population. Mutations in voltage‐gated sodium channels are responsible for several monogenic epilepsy syndromes. More than 800 mutations in the voltage‐gated sodium channel SCN1A have been reported in patients with generalized epilepsy with febrile seizures plus and Dravet syndrome. Heterozygous loss‐of‐function mutations in SCN1A result in Dravet syndrome, a severe infant‐onset epileptic encephalopathy characterized by intractable seizures, developmental delays and increased mortality. A common feature of monogenic epilepsies is variable expressivity among individuals with the same mutation, suggesting that genetic modifiers may influence clinical severity. Mice with heterozygous deletion of Scn1a (Scn1a+/?) model a number of Dravet syndrome features, including spontaneous seizures and premature lethality. Phenotype severity in Scn1a+/? mice is strongly dependent on strain background. On the 129S6/SvEvTac strain Scn1a+/? mice exhibit no overt phenotype, whereas on the (C57BL/6J × 129S6/SvEvTac)F1 strain Scn1a+/? mice exhibit spontaneous seizures and early lethality. To systematically identify loci that influence premature lethality in Scn1a+/? mice, we performed genome scans on reciprocal backcrosses. Quantitative trait locus mapping revealed modifier loci on mouse chromosomes 5, 7, 8 and 11. RNA‐seq analysis of strain‐dependent gene expression, regulation and coding sequence variation provided a list of potential functional candidate genes at each locus. Identification of modifier genes that influence survival in Scn1a+/? mice will improve our understanding of the pathophysiology of Dravet syndrome and may suggest novel therapeutic strategies for improved treatment of human patients. 相似文献
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采用基于体素形态学（voxel- based morphometry,VBM）的方法,分析了全面强直-阵挛型癫痫（epilepsy with generalized tonic clonic seizures,GTCS）患者的大脑结构异常情况。对31例临床诊断为GTCS的患者和31例正常志愿者,采集大脑三维（3-dimensional,3D）T1结构像,进行VBM全脑分析比较。通过GTCS患者组与正常对照组的比较,发现GTCS患者的双侧丘脑、双侧额叶、双侧岛叶、双侧小脑等区域的灰质体积有比较明显的减小,但没发现有意义的灰质体积增高的区域;患者双侧丘脑、左侧中央前回、左侧额内侧回、左侧额中回和其发病频率呈负相关,没有正相关的区域。结果显示,全面强直-阵挛型癫痫患者的大脑结构存在异常,说明大脑灰质体积的异常可能和全面强直-阵挛型癫痫的发病存在一定的关系。 相似文献
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《American journal of human genetics》2023,110(8):1356-1376
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Carolien G.F. de Kovel Eva H. Brilstra Marjan J.A. van Kempen Ruben van&#x;t Slot Isaac J. Nijman Zaid Afawi Peter De Jonghe Tania Djmi Renzo Guerrini Katia Hardies Ingo Helbig Rik Hendrickx Moine Kanaan Uri Kramer Anna‐Elina E. Lehesjoki Johannes R. Lemke Carla Marini Davide Mei Rikke S. Mller Manuela Pendziwiat Hannah Stamberger Arvid Suls Sarah Weckhuysen Bobby P.C. Koeleman 《Molecular Genetics & Genomic Medicine》2016,4(5):568-580
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Hulya Azakli Candan Gurses Muzaffer Arikan Aydın Aydoseli Yavuz Aras Altay Sencer Aysen Gokyigit Bilge Bilgic Duran Ustek 《Gene》2013