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Genetics & Heredity
Diana M. Cornejo-Sanchez, Anushree Acharya, Thashi Bharadwaj, Lizeth Marin-Gomez, Pilar Pereira-Gomez, Liz M. Nouel-Saied, Deborah A. Nickerson, Michael J. Bamshad, Heather C. Mefford, Isabelle Schrauwen, Jaime Carrizosa-Moog, William Cornejo-Ochoa, Nicolas Pineda-Trujillo, Suzanne M. Leal
Summary: This study evaluated two Colombian families with GEFS+, and identified new and known SCN1A gene variants, expanding the understanding of the genetic and phenotypic spectrum of the disease.
Article
Biochemistry & Molecular Biology
Ciria C. Hernandez, Yanwen Shen, Ningning Hu, Wangzhen Shen, Vinodh Narayanan, Keri Ramsey, Wen He, Liping Zou, Robert L. Macdonald
Summary: Febrile seizures (FS) are the most common form of epilepsy in children between six months and five years of age. Most of the variants associated with FS are found in the GABA(A) receptor gamma 2 subunit (GABRG2), leading to the loss of receptor function and negative impact on receptor biogenesis. Variants in GABRG2 result in a spectrum of phenotypic severity, ranging from asymptomatic to Dravet syndrome individuals, highlighting the relationship between the occurrence of variants and disease severity.
Article
Neurosciences
Antara Das, Bingyao Zhu, Yunyao Xie, Lisha Zeng, An T. Pham, Jonathan C. Neumann, Olga Safrina, Daniel R. Benavides, Grant R. MacGregor, Soleil S. Schutte, Robert F. Hunt, Diane K. O'Dowd
Summary: Introduction of the KT mutation into the mouse Scn1a gene led to spontaneous seizures and death in homozygous mutants by postnatal day 23. Heterozygous mutant mice displayed heat-induced seizures at around 42 degrees Celsius, while wild-type littermates did not. Current-clamp recordings revealed a significant decrease in excitability of inhibitory interneurons, potentially contributing to the seizure phenotype in the mouse model.
Article
Pediatrics
Jian Ding, Chun Wang, Guo-Qiang Huang, Jing-Wen Zhang, Qiong-Xiang Zhai, Zhi-Hong Chen, Yu-Xin Zhang, Yu-Xiong Guo
Summary: This study found that the mutation of KCNAB3 gene could lead to a decrease in hippocampal potassium currents in a mouse model of GEFS+. This result helps to reveal the pathogenesis of GEFS+.
TRANSLATIONAL PEDIATRICS
(2022)
Article
Clinical Neurology
Ling Li, Lamei Yuan, Wen Zheng, Yan Yang, Xiong Deng, Zhi Song, Hao Deng
Summary: This study identified a disease-causing variant in a Chinese Tujia ethnic family with Genetic Epilepsy with Febrile Seizures Plus (GEFSP) using whole exome sequencing, Sanger sequencing, and in silico prediction. The variant in the sodium voltage-gated channel alpha subunit 1 gene (SCN1A) coding region was found to co-segregate with the GEFSP phenotype and was predicted as disease-causing. These findings expand the genetic and phenotypic spectrum of GEFSP and have implications for genetic diagnoses, personalized therapies, and prognoses.
FRONTIERS IN NEUROLOGY
(2023)
Article
Neurosciences
Yang Tian, Qiong-Xiang Zhai, Xiao-Jing Li, Zhen Shi, Chuan-Fang Cheng, Cui-Xia Fan, Bin Tang, Ying Zhang, Yun-Yan He, Wen-Bin Li, Sheng Luo, Chi Hou, Wen-Xiong Chen, Wei-Ping Liao, Jie Wang
Summary: This study identified ATP6V0C gene mutations associated with febrile seizures (FS) and epilepsy with febrile seizures plus (EFS+). These mutations may affect the protein function and lead to afebrile seizures. Screening for ATP6V0C mutations can differentiate patients from other related diseases such as Dravet syndrome.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Clinical Neurology
Sarah E. Heron, Brigid M. Regan, Rebekah V. Harris, Alison E. Gardner, Matthew J. Coleman, Mark F. Bennett, Bronwyn E. Grinton, Katherine L. Helbig, Michael R. Sperling, Sheryl Haut, Eric B. Geller, Peter Widdess-Walsh, James T. Pelekanos, Melanie Bahlo, Slave Petrovski, Erin L. Heinzen, Michael S. Hildebrand, Mark A. Corbett, Ingrid E. Scheffer, Jozef Gecz, Samuel F. Berkovic
Summary: Missense variants in SLC32A1 have been identified as causative for GEFS+ and IGE, leading to altered neuronal inhibition by affecting GABA transport. These findings have been validated by studying multiple families.
Article
Clinical Neurology
Mahmoud Koko, Joshua E. Motelow, Kate E. Stanley, Dheeraj R. Bobbili, Ryan S. Dhindsa, Patrick May
Summary: GABRG2 likely plays an important role in familial GGE, while the association of GABAergic signaling gene sets with familial GGE is more prominent than with sporadic GGE.
Review
Pediatrics
Elisa Pasquetti, Manuela Lo Bianco, Federica Sullo, Francesca Patane, Laura Sciuto, Agata Polizzi, Andrea D. Pratico, Antonio Zanghi, Raffaele Falsaperla
Summary: One of the earliest discovered genes associated with epilepsy is SCN1B, which encodes for a beta-subunit of the voltage-gated sodium channel. Mutations in SCN1B can lead to various epilepsy syndromes, including febrile seizures plus and epileptic encephalopathies. This study expands our understanding of the phenotypic spectrum caused by mutations in this gene.
JOURNAL OF PEDIATRIC NEUROLOGY
(2023)
Article
Neurosciences
Naglaa Fathy Berseem, Essam Shawky A. E. H. Khattab, Dalia S. Saad, Sameh A. Abd Elnaby
Summary: The study found an association between SCN2A c. 56 G/A genetic polymorphism and the occurrence of febrile seizures, and it may also affect the patient's response to anti-epileptic drugs.
CNS & NEUROLOGICAL DISORDERS-DRUG TARGETS
(2022)
Article
Neurosciences
Jia Li, Si-Mei Lin, Jing-Da Qiao, Xiao-Rong Liu, Jie Wang, Mi Jiang, Jing Zhang, Min Zhong, Xu-Qin Chen, Jing Zhu, Na He, Tao Su, Yi-Wu Shi, Yong-Hong Yi, Wei-Ping Liao
Summary: This study identified CELSR3 gene variants potentially associated with FS/EFS+, leading to impaired protein function, but patients had favorable outcomes without neurodevelopmental disorders.
CNS NEUROSCIENCE & THERAPEUTICS
(2022)
Article
Behavioral Sciences
Baitao Zeng, Haoyi Zhang, Qing Lu, Qingzi Fu, Yang Yan, Wan Lu, Pengpeng Ma, Chuanxin Feng, Jiawei Qin, Laipeng Luo, Bicheng Yang, Yongyi Zou, Yanqiu Liu
Summary: This study identified five novel variants in the SCN1A gene, which have important implications for further genetic counseling and epilepsy research.
FRONTIERS IN BEHAVIORAL NEUROSCIENCE
(2023)
Article
Neurosciences
Qi Zhang, Cynthia Forster-Gibson, Eduard Bercovici, Alexandra Bernardo, Fei Ding, Wangzhen Shen, Katherine Langer, Tonia Rex, Jing-Qiong Kang
Summary: This study is the first report of haploinsufficiency of two GABR epilepsy genes and visual impairment due to altered axonal myelination and resultant optic nerve atrophy. The study suggests the far-reaching impact of GABR mutations and the translational significance of animal models with the same etiology.
EXPERIMENTAL NEUROLOGY
(2023)
Article
Neurosciences
Jing-Yang Wang, Jie Wang, Xin-Guo Lu, Wang Song, Sheng Luo, Dong-Fang Zou, Li-Dong Hua, Qian Peng, Yang Tian, Liang-Di Gao, Wei-Ping Liao, Na He
Summary: This study identified an association between PKD1 gene mutations and epilepsy, and found that there is a quantitative correlation between PKD1 gene mutations and the clinical manifestations of epilepsy. These findings will facilitate the genetic diagnosis and management of patients with PKD1 gene mutations.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Clinical Neurology
Raffaella Moretti, Lionel Arnaud, Delphine Bouteiller, Oriane Trouillard, Patricia Moreau, Julien Buratti, Agnes Rastetter, Boris Keren, Vincent Des Portes, Joseph Toulouse, Isabelle Gourfinkel-An, Eric Leguern, Christel Depienne, Cyril Mignot, Caroline Nava
Summary: This study describes two families with individuals affected by biallelic SCN1A variants, possibly explaining their phenotype. The findings provide additional evidence that homozygous SCN1A variants can cause GEFS+ and suggest that recessive inheritance may decrease the seizure threshold when combined.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2021)
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Genetics & Heredity
A. Liu, X. Xu, X. Yang, Y. Jiang, Z. Yang, X. Liu, Y. Wu, X. Wu, L. Wei, Y. Zhang
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Clinical Neurology
Ingrid E. Scheffer, Samuel Berkovic, Giuseppe Capovilla, Mary B. Connolly, Jacqueline French, Laura Guilhoto, Edouard Hirsch, Satish Jain, Gary W. Mathern, Solomon L. Moshe, Douglas R. Nordli, Emilio Perucca, Torbjoern Tomson, Samuel Wiebe, Yue-Hua Zhang, Sameer M. Zuberi
Article
Endocrinology & Metabolism
Jiao Xue, Xingzhi Chang, Yuehua Zhang, Zhixian Yang
METABOLIC BRAIN DISEASE
(2017)
Article
Endocrinology & Metabolism
Binbin Cao, Xiaoping Yang, Yinyin Chen, Qionghui Huang, Ye Wu, Qiang Gu, Jiangxi Xiao, Huixia Yang, Hong Pan, Junya Chen, Yu Sun, Li Ren, Chengfeng Zhao, Yanhua Deng, Yanling Yang, Xingzhi Chang, Zhixian Yang, Yuehua Zhang, Zhengping Niu, Juli Wang, Xiru Wu, Jingmin Wang, Yuwu Jiang
METABOLIC BRAIN DISEASE
(2017)
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Clinical Neurology
Xiaoling Yang, Ping Qian, Xiaojing Xu, Xiaoyan Liu, Xiru Wu, Yuehua Zhang, Zhixian Yang
BRAIN & DEVELOPMENT
(2018)
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Clinical Neurology
Xiaojuan Tian, Jintang Ye, Qi Zeng, Jing Zhang, Xiaoling Yang, Aijie Liu, Zhixian Yang, Xiaoyan Liu, Xiru Wu, Yuehua Zhang
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2018)
Letter
Neurosciences
Ji Zhou, Yao Zhang, Yiwen Jin, Taoyun Ji, Xinhua Bao, Yuehua Zhang, Hui Xiong, Xinzhi Chang, Yuwu Jiang, Ye Wu
JOURNAL OF NEUROIMMUNE PHARMACOLOGY
(2018)
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Multidisciplinary Sciences
Haoran Ji, Dongxiao Li, Ye Wu, Quanli Zhang, Qiang Gu, Han Xie, Taoyun Ji, Huifang Wang, Lu Zhao, Haijuan Zhao, Yanling Yang, Hongchun Feng, Hui Xiong, Jinhua Ji, Zhixian Yang, Liping Kou, Ming Li, Xinhua Bao, Xingzhi Chang, Yuehua Zhang, Li Li, Huijuan Li, Zhengping Niu, Xiru Wu, Jiangxi Xiao, Yuwu Jiang, Jingmin Wang
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Multidisciplinary Sciences
Jiao Xue, Pan Gong, Haipo Yang, Xiaoyan Liu, Yuwu Jiang, Yuehua Zhang, Zhixian Yang
SCIENTIFIC REPORTS
(2018)
Article
Mathematical & Computational Biology
Changhong Yang, Jiarui Li, Qixi Wu, Xiaoxu Yang, August Yue Huang, Jie Zhang, Adam Yongxin Ye, Yanmei Dou, Linlin Yan, Wei-zhen Zhou, Lei Kong, Meng Wang, Chen Ai, Dechang Yang, Liping Wei
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
(2018)
Article
Genetics & Heredity
Aijie Liu, Xiaoxu Yang, Xiaoling Yang, Qixi Wu, Jing Zhang, Dan Sun, Zhixian Yang, Yuwu Jiang, Xiru Wu, Liping Wei, Yuehua Zhang
JOURNAL OF MEDICAL GENETICS
(2019)
Article
Clinical Neurology
Zhixian Yang, Jiao Xue, Hui Li, Ping Qian, Xiaoyan Liu, Yuwu Jiang, Yuehua Zhang
CLINICAL NEUROPHYSIOLOGY
(2017)
Article
Clinical Neurology
Zhixian Yang, Hui Li, Jiao Xue, Ping Qian, Xiaoyan Liu, Yuehua Zhang
BRAIN & DEVELOPMENT
(2017)
Article
Clinical Neurology
Hui Li, Jiao Xue, Ping Qian, Yuehua Zhang, Xinhua Bao, Xiaoyan Liu, Zhixian Yang
BRAIN & DEVELOPMENT
(2017)
Article
Clinical Neurology
Jiao Xue, Ping Qian, Hui Li, Haipo Yang, Xiaoyan Liu, Yuehua Zhang, Zhixian Yang
CLINICAL NEUROPHYSIOLOGY
(2017)