Unraveling the Membrane Topology of TMEM151A: A Step Towards Understanding its Cellular Role

Authors: Morinelli, Lisastella ^{1, 2, †}, Corradi, Beatrice ^{1, 2, †}, Arnaldi, Pietro ¹, Cortese, Katia ^{1, 3}, Muià, Martina ¹, Zara, Federico ^{5, 6}, Maragliano, Luca ^{2, 4}, Sterlini, Bruno ^{1, 3, ‡}, Corradi, Anna ^{1, 3, ‡, ⁎}

Source: In Journal of Molecular Biology 1 December 2024 436(23)

Gray matter structural alterations of cortico-striato-thalamo-cortical loop in familial Paroxysmal Kinesigenic Dyskinesia

Authors: Dongcui Wang, Hong Jin, Fangfang Xie, Ziyun Wang, Wu Xing

Source: Heliyon, Vol 10, Iss 17, Pp e36739- (2024)

Subject Terms: Paroxysmal Kinesigenic Dyskinesia, Cortico-striato-thalamo-cortical loop, Cortical thickness, Subcortical nuclei volumes, Structural covariance network, Science (General), Q1-390, Social sciences (General), H1-99

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024127703; https://doaj.org/toc/2405-8440

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Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia

Authors: Yuan, Zhuangzhuang ^{a, 1}, Wang, Qian ^{a, 1}, Wang, Chenyu ^a, Liu, Yuxing ^a, Fan, Liangliang ^a, Liu, Yihui ^{b, ⁎⁎}, Huang, Hao ^{a, ⁎}

Source: In Heliyon 15 April 2024 10(7)

Epilepsy Spectrum Associated with PRRT2 Variants: Case Presentations

Authors: Semı̇h Taşdelen, Gözde Yeşı̇l Sayın, Sı̇bel Aylı̇n Uğur İşerı̇, Nerses Bebek, Betül Baykan

Source: Archives of Epilepsy, Vol 29, Iss 4, Pp 121-125 (2023)

Subject Terms: synaptopathy, benign familial infantile epilepsy, paroxysmal kinesigenic dyskinesia, prrt2, Neurology. Diseases of the nervous system, RC346-429, Medicine

File Description: electronic resource

Relation: http://archepilepsy.org/archives/archive-detail/article-preview/epilepsy-spectrum-associated-with-iprrt2-i-variant/63564; https://doaj.org/toc/2792-0550

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A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high‐throughput detection of PRRT2 gene c.649 locus

Authors: Min Wen, Hui Huang, Fei Huang, Ru Xu, Jing Zhang, Jia‐Geng Fan, Jun Zeng, Kai‐Wen Jiang, Ding Liu, Hua‐Lin Huang, Qing‐Nan He

Source: Molecular Genetics & Genomic Medicine, Vol 12, Iss 5, Pp n/a-n/a (2024)

Subject Terms: c.649 locus, paroxysmal kinesigenic dyskinesia, PRRT2, targeted high‐throughput detection, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/0728a5e7d7474c87b30502fe04d30d25

An Electroencephalography Profile of Paroxysmal Kinesigenic Dyskinesia

Authors: Huichun Luo, Xiaojun Huang, Ziyi Li, Wotu Tian, Kan Fang, Taotao Liu, Shige Wang, Beisha Tang, Ji Hu, Ti‐Fei Yuan, Li Cao

Source: Advanced Science, Vol 11, Iss 12, Pp n/a-n/a (2024)

Subject Terms: functional connectivity, high‐density electroencephalogram, oscillatory activity, paroxysmal kinesigenic dyskinesia, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2198-3844

Access URL: https://doaj.org/article/eb34c831b21f4cacbbc0ca2beaae6e4b

Lamotrigine as an alternative treatment for paroxysmal kinesigenic dyskinesia

Authors: Heather Leduc‐Pessah, Asif Doja

Source: Annals of the Child Neurology Society, Vol 1, Iss 2, Pp 149-151 (2023)

Subject Terms: epilepsy in women, lamotrigine, paroxysmal dyskinesia, paroxysmal dystonia, paroxysmal kinesigenic dyskinesia, Neurology. Diseases of the nervous system, RC346-429, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/2831-3267

Access URL: https://doaj.org/article/59102859c4a6453283e2348a8e58b952

Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels

Authors: Bruno Sterlini, Francesca Franchi, Lisastella Morinelli, Beatrice Corradi, Chiara Parodi, Martina Albini, Alessandra Bianchi, Antonella Marte, Pietro Baldelli, Giulio Alberini, Luca Maragliano, Pierluigi Valente, Fabio Benfenati, Anna Corradi

Source: Neurobiology of Disease, Vol 183, Iss , Pp 106177- (2023)

Subject Terms: Proline-rich transmembrane protein-2, Voltage-dependent sodium channels, Molecular dynamics, Intrinsic excitability, Paroxysmal kinesigenic dyskinesia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996123001924; https://doaj.org/toc/1095-953X

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Evaluation of iron deposition in the motor CSTC loop of a Chinese family with paroxysmal kinesigenic dyskinesia using quantitative susceptibility mapping

Authors: Fangfang Xie, Ting Mao, Jingyi Tang, Linmei Zhao, Jiuqing Guo, Huashan Lin, Dongcui Wang, Gaofeng Zhou

Source: Frontiers in Neurology, Vol 14 (2023)

Subject Terms: paroxysmal kinesigenic dyskinesia (PKD), cortico-striatal-thalamo-cortical loop, quantitative susceptibility mapping (QSM), multi-scale dipole inversion, iron deposition, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1164600/full; https://doaj.org/toc/1664-2295

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PRRT2 Gene Analysis of Paroxysmal Kinesigenic Dyskinesia (PKD) in Thai Children

Authors: Pantaree Laosuebsakulthai, Surachai Likasitwattanakul, Theerapong Pho-iam, Wanna Thongnoppakhun, Mongkol Chanvanichtrakool

Source: Journal of Health Science and Medical Research (JHSMR), Vol 40, Iss 4, Pp 419-424 (2022)

Subject Terms: paroxysmal kinesigenic dyskinesia, pkd, prrt2 gene, thai children, Medicine

File Description: electronic resource

Relation: https://www.jhsmr.org/index.php/jhsmr/article/view/853; https://doaj.org/toc/2586-9981; https://doaj.org/toc/2630-0559

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Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation

Authors: Yaxian Deng, Juanyu Xu, Chunmei Yao, Lei Wang, Xiaohuan Dong, Chengsong Zhao

Source: Pediatric Investigation, Vol 6, Iss 1, Pp 11-15 (2022)

Subject Terms: ICCA, Paroxysmal kinesigenic dyskinesia, PRRT2, Treatment, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/2574-2272

Access URL: https://doaj.org/article/43c7c76d82d7486c808e8431ccf3b25a

Successful Treatment of a Paroxysmal Kinesigenic Dyskinesia Patient with Carbamazepine-Induced Stevens-Johnson Syndrome Using Oxcarbazepine Monotherapy: A Case Report

Authors: Hung T. Tran, Khang V. Nguyen, Laurent Vercueil

Source: Case Reports in Neurology, Vol 13, Iss 3, Pp 598-604 (2021)

Subject Terms: antiepileptic drugs, case report, paroxysmal kinesigenic dyskinesia, stevens-johnson syndrome, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.karger.com/Article/FullText/518891; https://doaj.org/toc/1662-680X

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The case of paroxysmal kinesigenic dyskinesia: a long way from a symptom to the diagnosis

Authors: N. L. Kim, M. A. Yamin

Source: Alʹmanah Kliničeskoj Mediciny, Vol 49, Iss 3, Pp 226-230 (2021)

Subject Terms: paroxysmal kinesigenic dyskinesia, prrt2, clinical picture, epilepsy, Medicine

File Description: electronic resource

Relation: https://www.almclinmed.ru/jour/article/view/1444; https://doaj.org/toc/2072-0505; https://doaj.org/toc/2587-9294

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Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China

Authors: Li Cao, Xiaojun Huang, Ning Wang, Zhiying Wu, Cheng Zhang, Weihong Gu, Shuyan Cong, Jianhua Ma, Ling Wei, Yanchun Deng, Qi Fang, Qi Niu, Jin Wang, Zhaoxia Wang, You Yin, Jinyong Tian, Shufen Tian, Hongyan Bi, Hong Jiang, Xiaorong Liu, Yang Lü, Meizhen Sun, Jianjun Wu, Erhe Xu, Tao Chen, Xu Chen, Wei Li, Shujian Li, Qinghua Li, Xiaonan Song, Ying Tang, Ping Yang, Yun Yang, Min Zhang, Xiong Zhang, Yuhu Zhang, Ruxu Zhang, Yi Ouyang, Jintai Yu, Quanzhong Hu, Qing Ke, Yuanrong Yao, Zhe Zhao, Xiuhe Zhao, Guohua Zhao, Furu Liang, Nan Cheng, Jianhong Han, Rong Peng, Shengdi Chen, Beisha Tang

Source: Translational Neurodegeneration, Vol 10, Iss 1, Pp 1-10 (2021)

Subject Terms: Paroxysmal kinesigenic dyskinesia, Diagnosis and treatment, Expert consensus, China, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://doaj.org/toc/2047-9158

Access URL: https://doaj.org/article/3768c01518184ed19dc57c7d0af0d22d

Screening of the TMEM151A Gene in Patients With Paroxysmal Kinesigenic Dyskinesia and Other Movement Disorders

Authors: Ling-Yan Ma, Lin Han, Meng Niu, Lu Chen, Ya-Zhen Yu, Tao Feng

Source: Frontiers in Neurology, Vol 13 (2022)

Subject Terms: paroxysmal kinesigenic dyskinesia (PKD), TMEM151A gene, dystonia, whole-exome sequencing (WES), paroxysmal exercise-induced dyskinesia (PED), paroxysmal non-kinesigenic dyskinesia (PNKD), Neurology. Diseases of the nervous system, RC346-429

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Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.865690/full; https://doaj.org/toc/1664-2295

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Case Report: A Case of Concomitant Paroxysmal Kinesigenic Dyskinesia and Epilepsy: Can We Treat Two Birds With One Stone?

Authors: Jun-Hong Geng, Yang Zheng, Quan-Fu Li, Qun Hou, Xiao-Hang Wang, Yan Jiang

Source: Frontiers in Neurology, Vol 13 (2022)

Subject Terms: lacosamide, paroxysmal kinesigenic dyskinesia, epilepsy, movement disorder, PRRT2, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.826897/full; https://doaj.org/toc/1664-2295

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PRRT2 mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy

Authors: Rie Motoyama, Takashi Matsudaira, Kiyohito Terada, Naotaka Usui, Koh-ichiro Yoshiura, Yukitoshi Takahashi

Source: Epilepsy & Behavior Reports, Vol 19, Iss , Pp 100554- (2022)

Subject Terms: Focal epilepsy, Proline-rich transmembrane protein 2 (PRRT2), Paroxysmal kinesigenic dyskinesia (PKD), Paroxysmal non-kinesigenic dyskinesia (PNKD), Cerebellar atrophy, Neurology. Diseases of the nervous system, RC346-429, Neurophysiology and neuropsychology, QP351-495

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589986422000314; https://doaj.org/toc/2589-9864

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Case Report: Long-Term Suppression of Paroxysmal Kinesigenic Dyskinesia After Bilateral Thalamotomy

Authors: Masato Murakami, Shiro Horisawa, Kenko Azuma, Hiroyuki Akagawa, Taku Nonaka, Takakazu Kawamata, Takaomi Taira

Source: Frontiers in Neurology, Vol 12 (2021)

Subject Terms: paroxysmal kinesigenic dyskinesia, dystonia, antiepileptic drugs, remission, ventro-oral thalamotomy, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.789468/full; https://doaj.org/toc/1664-2295

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Paroxysmal Genetic Movement Disorders and Epilepsy

Authors: Claudio M. de Gusmão, Lucas Garcia, Mohamad A. Mikati, Samantha Su, Laura Silveira-Moriyama

Source: Frontiers in Neurology, Vol 12 (2021)

Subject Terms: paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise induced dyskinesia, episodic ataxia, infantile convulsions and choreoathetosis syndrome, generalized epilepsy and paroxysmal dyskinesia, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.648031/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/99a88fa303e547baab0f43da16a66470

The Spectrum of PRRT2-Associated Disorders: Update on Clinical Features and Pathophysiology

Authors: Annamaria Landolfi, Paolo Barone, Roberto Erro

Source: Frontiers in Neurology, Vol 12 (2021)

Subject Terms: paroxysmal kinesigenic dyskinesia, benign familial infantile seizures, hemiplegic migraine, synaptic dysfunction, cerebellum, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.629747/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/e6f49424945145109668800678b0d6bf