Výsledky vyhledávání

Akademický článek

The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant.

Autor: Wang, Yue¹ (AUTHOR), Yu, Peimin¹ (AUTHOR), Zhu, Guoxing¹ (AUTHOR), Wu, Xunyi¹ (AUTHOR), Ding, Ding¹ (AUTHOR), Hong, Zhen¹ (AUTHOR) profzhong@sina.com

Publikováno v: PLoS ONE. 4/26/2023, Vol. 17 Issue 4, p1-13. 13p.

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from Epilepsy

Autor: Song Su, Ying Ren, Hongwei Zhang, Yi Liu, Yong Liu, Zilong Li, Tong Zhang, Fang Fang

Publikováno v: Stem Cell Research, Vol 81, Iss , Pp 103574- (2024)

Epilepsy affects ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 3 Protein (NPRL3) mutation and suffering from Epilepsy verified

Externí odkaz: https://doaj.org/article/bbaf87bfe7f846e88840eb9ddc78b82a

Zobrazit plný text záznamu

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Akademický článek

Hemimegalencephaly and intractable focal seizures related to NPRL3 mutation with variable familial expressivity treated with anatomic hemispherectomy

Autor: Richard B. Carozza, Robert P. Naftel, Asha Sarma, Emma G. Carter

Publikováno v: Annals of the Child Neurology Society, Vol 1, Iss 3, Pp 239-243 (2023)

Abstract Introduction Hemimegalencephaly is a syndrome of dysplastic cortical formation, with hamartomatous overgrowth of a cerebral hemisphere, classically associated with intractable focal epilepsy, hemiparesis, and hemianopia. While often cryptoge

Externí odkaz: https://doaj.org/article/7ba29b040231468b947b5fb973482ba4

Zobrazit plný text záznamu

Akademický článek

From Alpha-Thalassemia Trait to NPRL3 -Related Epilepsy: A Genomic Diagnostic Odyssey.

Autor: Nabavi Nouri M; Division of Neurology, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5A5, Canada.; Children's Health Research Institute, London Health Sciences Centre, London, ON N6A 5W9, Canada., Alandijani L; Division of Neurology, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5A5, Canada., van Engelen K; Division of Genetics, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5A5, Canada., Tole S; Division of Hematology and Oncology, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5A5, Canada., Lalonde E; Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5A5, Canada., Balci TB; Children's Health Research Institute, London Health Sciences Centre, London, ON N6A 5W9, Canada.; Division of Genetics, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5A5, Canada.

Publikováno v: Genes [Genes (Basel)] 2024 Jun 25; Vol. 15 (7). Date of Electronic Publication: 2024 Jun 25.

Zobrazit plný text záznamu

Akademický článek

Identification of two rare NPRL3 variants in two Chinese families with familial focal epilepsy with variable foci 3: NGS analysis with literature review

Autor: Junji Hu, Xueping Gao, Longchang Chen, Yuling Kan, Zhaoli Du, Shuangqing Xin, Wenkai Ji, Qiang Yu, Lili Cao

Publikováno v: Frontiers in Genetics, Vol 13 (2023)

Background: The GAP Activity Towards Rags 1 (GATOR1) complex, which includes DEPDC5, NPRL2, and NPRL3, plays a key role in epilepsy. It has been reported that focal epilepsy is associated with mutations in the NPRL3 gene in some cases. We report two

Externí odkaz: https://doaj.org/article/4282fb8cf73c41d2994659b24dc8cd56

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání