Association of LONP1 gene with epilepsy and the sub-regional effect

Authors: Si-Xiu Li, Na He, Jian-Xiang Liao, Xin-Guo Lu, Wen-Guang Hu, Xiao-Rong Liu, Wei-Ping Liao, Xing-Wang Song, Bin Li

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)

Subject Terms: LONP1 gene, Epilepsy, Molecular sub-regional effect, Genotype-phenotype correlation, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/fdc0c5b5768348d28439a1582f30355d

Corrigendum: ATP6V0C is associated with febrile seizures and epilepsy with febrile seizures plus

Authors: 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

Source: Frontiers in Molecular Neuroscience, Vol 17 (2024)

Subject Terms: ATP6V0C, loss of function, febrile seizures, epilepsy with febrile seizures plus, whole-exome sequencing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2024.1385915/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/a2847d81b9cc4118b9152c7100cc4f31

DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation

Authors: Yun-Yan He, Sheng Luo, Liang Jin, Peng-Yu Wang, Jie Xu, Hong-Liang Jiao, Hong-Jun Yan, Yao Wang, Qiong-Xiang Zhai, Jing-Jing Ji, Weng-Jun Zhang, Peng Zhou, Hua Li, Wei-Ping Liao, Song Lan, Lin Xu

Source: Frontiers in Molecular Neuroscience, Vol 16 (2024)

Subject Terms: DLG3 gene, epilepsy, neurodevelopmental disorder, variants, Genotype-phenotype correlation, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2023.1290919/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/d7aafe8f0f10474ebabc753ade012823

HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism

Authors: Na He, Bao‐Zhu Guan, Jie Wang, Han‐Kui Liu, Yong Mao, Zhi‐Gang Liu, Fei Yin, Jing Peng, Bo Xiao, Bei‐sha Tang, Dong Zhou, Guang Huang, Qi‐Lin Dai, Ying Zeng, Hong Han, Qiong‐Xiang Zhai, Bin Li, Bin Tang, Wen‐Bin Li, Wang Song, Liu Liu, Yi‐Wu Shi, Bing‐Mei Li, Tao Su, Peng Zhou, Xiao‐Rong Liu, Li‐Wu Guo, Yong‐Hong Yi, Wei‐Ping Liao

Source: Clinical and Translational Medicine, Vol 13, Iss 6, Pp n/a-n/a (2023)

Subject Terms: cobalamin metabolism disorders, HCFC1 variant, molecular sub‐regional effect, partial epilepsy, proteolysis dysfunction, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2001-1326

Access URL: https://doaj.org/article/b7aa36b3436b4440a085e851cb780fae

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Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism

Authors: Jie Wang, Sarah Poliquin, Felicia Mermer, Jaclyn Eissman, Eric Delpire, Juexin Wang, Wangzhen Shen, Kefu Cai, Bing-Mei Li, Zong-Yan Li, Dong Xu, Gerald Nwosu, Carson Flamm, Wei-Ping Liao, Yi-Wu Shi, Jing-Qiong Kang

Source: Molecular Brain, Vol 13, Iss 1, Pp 1-15 (2020)

Subject Terms: Endoplasmic reticulum, Degradation, Mutation, GABA transporter 1, Protein stability, 3H GABA uptake, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13041-020-00612-6; https://doaj.org/toc/1756-6606

Access URL: https://doaj.org/article/cbe6c3611641421f8f2d03e15a5876da

Editorial: Sub-molecular mechanism of genetic epilepsy

Authors: Wei-Ping Liao, Qian Chen, Yu-Wu Jiang, Sheng Luo, Xiao-Rong Liu

Source: Frontiers in Molecular Neuroscience, Vol 15 (2022)

Subject Terms: genetic epilepsy, sub-molecular mechanism, genotype, phenotypic variation, functional domain, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2022.958747/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/b278a8e315ca485aa001d24c21526b00

Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation

Authors: 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

Source: Frontiers in Molecular Neuroscience, Vol 15 (2022)

Subject Terms: PKD1 gene, epilepsy with antecedent febrile seizures, genotype-phenotype association, monoallelic mutation, compound heterozygous mutations, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2022.861159/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/e84b32ec3a6c4c24bd91dd283f4f54bb

Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy

Authors: Sheng Luo, Zhi-Gang Liu, Juan Wang, Jun-Xia Luo, Xing-Guang Ye, Xin Li, Qiong-Xiang Zhai, Xiao-Rong Liu, Jie Wang, Liang-Di Gao, Fu-Li Liu, Zi-Long Ye, Huan Li, Zai-Fen Gao, Qing-Hui Guo, Bing-Mei Li, Yong-Hong Yi, Wei-Ping Liao

Source: Frontiers in Molecular Neuroscience, Vol 15 (2022)

Subject Terms: LAMA5 gene, infant-onset epilepsy, laminins, trios-based WES, spasms, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2022.825390/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/4e0afead762e4a949294f4e33dce5d1f

ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus

Authors: 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

Source: Frontiers in Molecular Neuroscience, Vol 15 (2022)

Subject Terms: ATP6V0C, loss of function, febrile seizures, epilepsy with febrile seizures plus, whole-exome sequencing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2022.889534/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/11a1b44fa0a344beb0a81664897b1c58

Critical Role of E1623 Residue in S3-S4 Loop of Nav1.1 Channel and Correlation Between Nature of Substitution and Functional Alteration

Authors: Tao Su, Meng-Long Chen, Li-Hong Liu, Hen Meng, Bin Tang, Xiao-Rong Liu, Wei-Ping Liao

Source: Frontiers in Molecular Neuroscience, Vol 14 (2022)

Subject Terms: missense, sodium channel, SCN1A, epilepsy, prediction, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2021.797628/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/a858231cdca34078a998212e88f8aeec

IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.

Authors: Wang Song, Wen- Jun Bian, Hua Li, Qing- Hui Guo, Jie Wang, Bin Tang, Jia- Yuan Zhang, Wei Wei, Xiao- Rong Liu, Wei- Ping Liao, Bin Li, Na He

Source: Journal of Medical Genetics; Sep2024, Vol. 61 Issue 9, p895-903, 9p

GRIN2A Variants Associated With Idiopathic Generalized Epilepsies

Authors: Xiao-Rong Liu, Xing-Xing Xu, Si-Mei Lin, Cui-Ying Fan, Ting-Ting Ye, Bin Tang, Yi-Wu Shi, Tao Su, Bing-Mei Li, Yong-Hong Yi, Jian-Hong Luo, Wei-Ping Liao

Source: Frontiers in Molecular Neuroscience, Vol 14 (2021)

Subject Terms: GRIN2A gene, N-methyl-D-aspartate receptors, gain of function, sub-regional effect, idiopathic generalized epilepsy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2021.720984/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/b804738b5f7a465d8119396683083633

HLA Risk Alleles in Aromatic Antiepileptic Drug-Induced Maculopapular Exanthema

Authors: Yi-Wu Shi, Jie Wang, Fu-Li Min, Wen-Jun Bian, Bi-Jun Mao, Yong Mao, Bing Qin, Bing-Mei Li, Yang-Mei Ou, Yun-Qi Hou, Xin Zou, Bao-Zhu Guan, Na He, Yong-Jun Chen, Xue-Lian Li, Juan Wang, Wei-Yi Deng, Han-Kui Liu, Nan-Xiang Shen, Xiao-Rong Liu, Yong-Hong Yi, Lie-Min Zhou, Dong Zhou, Patrick Kwan, Wei-Ping Liao

Source: Frontiers in Pharmacology, Vol 12 (2021)

Subject Terms: antiepileptic drugs, oxcarbazepine, maculopapular exanthema, human leukocyte antigen, risk factor, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2021.671572/full; https://doaj.org/toc/1663-9812

Access URL: https://doaj.org/article/b2d52788d724455490d24acdd1a03ac9

RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia

Authors: Mei-Gang Ma, Xiao-Rong Liu, Yuan Wu, Jie Wang, Bing-Mei Li, Yi-Wu Shi, Tao Su, Bin Li, De-Tian Liu, Yong-Hong Yi, Wei-Ping Liao

Source: Frontiers in Neuroscience, Vol 15 (2021)

Subject Terms: RYR2, mutations, epilepsy, BECTS, arrhythmia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2021.629610/full; https://doaj.org/toc/1662-453X

Access URL: https://doaj.org/article/6b8b8b71afc246b392493852936076e1

YWHAG Mutations Cause Childhood Myoclonic Epilepsy and Febrile Seizures: Molecular Sub-regional Effect and Mechanism

Authors: Xing-Guang Ye, Zhi-Gang Liu, Jie Wang, Jie-Min Dai, Pei-Xiu Qiao, Ping-Ming Gao, Wei-Ping Liao

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: YWHAG gene, 14-3-3γ, myoclonic epilepsy, febrile seizures, molecular sub-regional effect, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.632466/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/4f1cf6540b1a4c2db6986a5eb3c65a5e

Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance

Authors: Xiao-Rong Liu, Wen-Jun Bian, Jie Wang, Ting-Ting Ye, Bing-Mei Li, De-Tian Liu, Bin Tang, Wei-Wen Deng, Yi-Wu Shi, Tao Su, Yong-Hong Yi, Wei-Ping Liao

Source: Frontiers in Genetics, Vol 11 (2020)

Subject Terms: whole-exome sequencing, congenital disorder of glycosylation, immunodeficiency, PGM3 gene, idiopathic focal epilepsy, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.559080/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/da75918c6dff4a3c8196714c29215396

DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect

Authors: Liu Liu, Zi-Rong Chen, Hai-Qing Xu, De-Tian Liu, Yong Mao, Han-Kui Liu, Xiao-Rong Liu, Peng Zhou, Si-Mei Lin, Bin Li, Na He, Tao Su, Qiong-Xiang Zhai, Heng Meng, Wei-Ping Liao, Yong-Hong Yi

Source: Frontiers in Neuroscience, Vol 14 (2020)

Subject Terms: DEPDC5, focal epilepsy, febrile seizures, genotype–phenotype correlation, molecular sub-regional effect, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fnins.2020.00821/full; https://doaj.org/toc/1662-453X

Access URL: https://doaj.org/article/1b5a226905c6458c8167853cff9b7962

ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes.

Authors: Ming-Feng He, Li-Hong Liu, Sheng Luo, Juan Wang, Jia-Jun Guo, Peng-Yu Wang, Qiong-Xiang Zhai, Su-Li He, Dong-Fang Zou, Xiao-Rong Liu, Bing-Mei Li, Hai-Yan Ma, Jing-Da Qiao, Peng Zhou, Na He, Yong-Hong Yi, Wei-Ping Liao

Source: Journal of Medical Genetics; Jul2024, Vol. 61 Issue 7, p652-660, 14p

Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome

Authors: Na He, Bing-Mei Li, Zhao-Xia Li, Jie Wang, Xiao-Rong Liu, Heng Meng, Bin Tang, Wen-Jun Bian, Yi-Wu Shi, Wei-Ping Liao

Source: Journal of Neurodevelopmental Disorders, Vol 10, Iss 1, Pp 1-8 (2018)

Subject Terms: Autism spectrum disorder, Intellectual disability, Epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s11689-018-9229-x; https://doaj.org/toc/1866-1947; https://doaj.org/toc/1866-1955

Access URL: https://doaj.org/article/0266287b00834141a41a5c633b20bde7