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Dentatorubral-pallidoluysian atrophy: a case report and review of literature.

Autor: Chen, Xin¹ (AUTHOR), Xiang, Wenwen¹ (AUTHOR), Xu, Lijun¹ (AUTHOR), Zhao, Jiahao¹ (AUTHOR), Yu, Ye¹ (AUTHOR), Ke, Qing^1,2 (AUTHOR), Liu, Zhipeng¹ (AUTHOR), Gan, Li¹ (AUTHOR) ndefy12374@ncu.edu.cn

Publikováno v: Journal of Medical Case Reports. 9/6/2024, Vol. 18 Issue 1, p1-9. 9p.

Dentatorubral-Pallidoluysian Atrophy (DRPLA) in Three Successive Generations with Anticipation in an Indian Family.

Autor: Kaur R; Department of Neurology, All India Institute of Medical Sciences (AIIMS), New Delhi, India., Agarwal A; Department of Neurology, All India Institute of Medical Sciences (AIIMS), New Delhi, India., Garg D; Department of Neurology, All India Institute of Medical Sciences (AIIMS), New Delhi, India., Shankar A; Division of Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, New Delhi, India., Sharma P; Division of Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Kamla Nehru Nagar, Ghaziabad, Uttar Pradesh, India., De T; Division of Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, New Delhi, India., Wasiq M; Department of Neurology, All India Institute of Medical Sciences (AIIMS), New Delhi, India., Rajan R; Department of Neurology, All India Institute of Medical Sciences (AIIMS), New Delhi, India., Garg A; Department of Neuroimaging and Interventional Neuroradiology, All India Institute of Medical Sciences (AIIMS), New Delhi, India., Faruq M; Division of Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Kamla Nehru Nagar, Ghaziabad, Uttar Pradesh, India., Srivastava AK; Department of Neurology, All India Institute of Medical Sciences (AIIMS), New Delhi, India.

Publikováno v: Annals of Indian Academy of Neurology [Ann Indian Acad Neurol] 2024 Oct 10. Date of Electronic Publication: 2024 Oct 10.

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Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)

Autor: Hideaki Shiraishi, Kiyoshi Egawa, Tomoshiro Ito, Osamu Kawano, Naoko Asahina, Shinobu Kohsaka

Publikováno v: Epilepsy and Behavior Case Reports, Vol 8, Iss C, Pp 44-46 (2017)

We administered perampanel (PER) to a bedridden 13-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA). The DRPLA diagnosis was based on the presence of a CAG trinucleotide repeat in the ATN1 gene. The patient experienced continuo

Externí odkaz: https://doaj.org/article/0fb6d9a93b9f49f2afc078ab652ba324