Article
Oncology
Yulan Chen, Dianfu Chen, Shaoyun Zhao, Gonglu Liu, Hongfu Li, Zhi-Ying Wu
Summary: In this study, the penetrance of PRRT2 was estimated, with findings that Asian patients or carriers of truncated variants are more likely to develop PRRT2-related disorders. Penetrance was approximately three-quarters, which is meaningful for genetic counseling.
FRONTIERS OF MEDICINE
(2021)
Article
Clinical Neurology
Yu Gu, Daoqi Mei, Xiaona Wang, Ang Ma, Jinghui Kong, Yaodong Zhang
Summary: This study used whole-exome sequencing to diagnose seven patients with benign familial infantile epilepsy (BFIE) and analyzed their clinical phenotypes and genetic characteristics. The results showed that the main clinical phenotype of these patients was focal or generalized tonic-clonic seizures, which could be well controlled by anti-seizure medication. Genetic analysis identified mutations in the PRRT2 gene in three patients, including one previously unreported variant. Therefore, whole-exome sequencing is an effective method for diagnosing BFIE and expanding our understanding of the genetic basis of the condition.
FRONTIERS IN NEUROLOGY
(2023)
Article
Medicine, Research & Experimental
Jialinzi He, Haiyun Tang, Chaorong Liu, Langzi Tan, Wenbiao Xiao, Bo Xiao, Hongyu Long, Lili Long
Summary: This study investigated the clinical manifestations and pathogenic variants in three large families with PKD and/or BFIE in China. Three causative heterozygous variants in the PRRT2 gene were identified, which co-segregated with the phenotype and genotype in the family members. The results deepen the understanding of PKD/BFIE and extend the genotypic-phenotypic spectrum of these disorders.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2021)
Article
Clinical Neurology
Alberto Cossu, Joana L. L. Santos, Giulia Galati, Marina Nikanorova, Paola Costa, Yuan Mang, Asli Silahtaroglu, Guido Rubboli, Niels Tommerup, Bernardo Dalla Bernardina, Rikke S. S. Moller, Gaetano Cantalupo, Elena Gardella
Summary: This study reports two unrelated families with benign familial infantile seizures (BFIS) evolving to encephalopathy related to status epilepticus during sleep (ESES). Whole-exome sequencing revealed a frameshift mutation in the PRRT2 gene in both probands and affected family members. The mechanism and phenotypic variability of PRRT2 variants in epilepsy remain poorly understood.
NEUROLOGICAL SCIENCES
(2023)
Editorial Material
Genetics & Heredity
Yu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, Shao-Yun Zhao, Hong-Fu Li, Zhi-Ying Wu
Summary: This study identified a group of patients with isolated paroxysmal kinesigenic dyskinesia (PKD) who also have 16p11.2 microdeletion (16p11.2MD), and described their related phenotypes. The results showed that most of these patients had mild language delay, compromised learning ability, and mild motor delay, as well as abnormal neuroimaging findings in some cases. It is important to conduct a detailed developmental history inquiry and CNV testing to distinguish these patients from those with isolated PKD.
NEUROLOGY-GENETICS
(2022)
Article
Pediatrics
Kaitlin A. Greene, Vivien Lu, Marta San Luciano, William Qubty, Samantha L. Irwin, Barbara Grimes, Amy A. Gelfand
Summary: The study revealed that BPT can significantly impact the quality of life for children and families, with some children potentially developing migraines or other migraine-related syndromes. Those who exhibit migrainous features during BPT attacks are more likely to develop migraines in the future.
PEDIATRIC RESEARCH
(2021)
Article
Clinical Neurology
Qianlei Zhao, Ying Hu, Zhenwei Liu, Shiyu Fang, Feixia Zheng, Xiaoyu Wang, Feng Li, Xiucui Li, Zhongdong Lin
Summary: This study found that PRRT2 gene variants are closely related to Chinese patients with SFIE, and oxcarbazepine (OXC) may be more effective in treatment than levetiracetam (LEV) and sodium valproate (VPA).
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2021)
Review
Clinical Neurology
Claudio M. de Gusmao, Lucas Garcia, Mohamad A. Mikati, Samantha Su, Laura Silveira-Moriyama
Summary: This review examines different types of paroxysmal movement disorders and their genetic etiologies related to epilepsy, emphasizing the importance of clinical phenotyping for diagnosis and genetic testing interpretation. It discusses insights on the pathophysiology of select disorders and shared treatment principles. The growing number of genes associated with movement disorders and epilepsy are likely to lead to more effective treatments in the future.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Huan Wang, Pengcheng Huang, Min Zhu, Xin Fang, Chensi Wu, Daojun Hong
Summary: This study reports the typical phenotype of paroxysmal kinesigenic dyskinesia (PKD) observed in a three-generation family with five individuals affected. Interestingly, one of the individuals exhibited benign familial infantile convulsions (BFIC) at a young age, which spontaneously resolved. At a later age, she developed PKD and gradually relieved. Whole exome sequence and co-segregation analysis identified a novel heterozygous variant in the TMEM151A gene. The findings suggest an association between the TMEM151A gene and the disease spectrum of PKD-PKD/IC-BFIC.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
De-Tian Liu, Xue-Qing Tang, Rui-Ping Wan, Sheng Luo, Bao-Zhu Guan, Bin Li, Li-Hong Liu, Bing-Mei Li, Zhi-Gang Liu, Long-Shan Xie, Yong-Hong Yi
Summary: This study suggests that feeding, especially vigorous sucking, may trigger seizures in infants with PRRT2 mutations. Changing feeding behavior can help prevent seizures. The study also highlights a correlation between PRRT2 gene mutations and the form of seizures.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Samuel F. Berkovic, Pasquale Striano, Shoji Tsuji
Summary: Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME) is a specific and recognizable epilepsy syndrome with autosomal dominant inheritance. Initially, it was confused with other familial myoclonus epilepsies but was later recognized as a distinct syndrome in Japan. Families with this syndrome were subsequently identified worldwide, and it was found to be caused by pentanucleotide expansions in at least six genes. The phenotype varies within and between families, mainly due to expansion size.
Article
Neurosciences
Xiuli Li, Du Lei, Kun Qin, Lei Li, Yingying Zhang, Dong Zhou, Graham J. Kemp, Qiyong Gong
Summary: This study explored the impact of proline-rich transmembrane protein 2 mutations on the brain structure of paroxysmal kinesigenic dyskinesia patients. The results showed that these mutations lead to deficits in gray matter networks, offering new insights into the pathophysiological mechanisms of paroxysmal kinesigenic dyskinesia.
Article
Clinical Neurology
Qiaoyan Shao, Xiaorong Shi, Bihong Ma, Jiabin Zeng, Aidong Zheng, Wenhuang Xie
Summary: This study reports a case of familial infantile myoclonic epilepsy caused by a homozygous TBC1D24 mutation. Long-term clinical follow-up not only enriches the clinical phenotype of the disease, but also provides clinical experience for early diagnosis and treatment of the disease.
Article
Clinical Neurology
Xianyu Liu, Qiyang Shen, Guo Zheng, Hu Guo, Xiaopeng Lu, Xiaoyu Wang, Xiao Yang, Zixuan Cao, Jing Chen
Summary: NGS has revealed genetic causes of epileptic encephalopathy in Chinese children, with pathogenic variants identified in 34% of the cohort. The phenotypes of genes with pathogenic variants were diverse, and early diagnosis through NGS may lead to precise therapeutic interventions and potentially improve developmental outcomes.
FRONTIERS IN NEUROLOGY
(2021)
Article
Pediatrics
Yang Tian, Zhen Shi, Jiahao Cai, Chi Hou, Xiuying Wang, Haixia Zhu, Binwei Peng, Kaili Shi, Xiaojing Li, Sitang Gong, Wen-Xiong Chen
Summary: This study investigated the efficacy of levetiracetam in treating SeLIE patients with PRRT2 mutations and found that levetiracetam did not benefit these patients, but other antiseizure medications showed efficacy.
Article
Genetics & Heredity
A. Liu, X. Xu, X. Yang, Y. Jiang, Z. Yang, X. Liu, Y. Wu, X. Wu, L. Wei, Y. Zhang
Article
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)
Article
Clinical Neurology
Xiaoling Yang, Ping Qian, Xiaojing Xu, Xiaoyan Liu, Xiru Wu, Yuehua Zhang, Zhixian Yang
BRAIN & DEVELOPMENT
(2018)
Article
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)
Article
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
Article
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)