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Three siblings with self-limited familial infantile epilepsy with mutation: A case series

Autor: Naoto Iwanami, Shigeru Nagaki, Aki Gen, Daisuke Azuma, Toshiyuki Yamamoto, Tamotsu Matsunaga

Publikováno v: SAGE Open Medical Case Reports, Vol 12 (2024)

We report three sisters with self-limited familial infantile epilepsy, caused by a mutation in proline-rich transmembrane protein2. Self-limited familial infantile epilepsy has been established as a distinct epileptic syndrome characterized by focal

Externí odkaz: https://doaj.org/article/f78910f1b6c941b8917e3322dd68e67d

Clinical and genetic analysis of benign familial infantile epilepsy caused by PRRT2 gene variant

Autor: Yu Gu, Daoqi Mei, Xiaona Wang, Ang Ma, Jinghui Kong, Yaodong Zhang

Publikováno v: Frontiers in Neurology, Vol 14 (2023)

ObjectiveThis study presents the clinical phenotypes and genetic analysis of seven patients with benign familial infantile epilepsy (BFIE) diagnosed by whole-exome sequencing.MethodsThe clinical data of seven children with BFIE diagnosed at the Depar

Externí odkaz: https://doaj.org/article/76d8da7b286d4276a26b242b5b8ba8ff

Emergence of lingual dystonia and strabismus in early-onset SCN8A self-limiting familial infantile epilepsy.

Autor: Ancora C; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Dianalund, Denmark.; Pediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, Padova University Hospital, Padova, Italy., Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Instituto de Salud Carlos III, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain., Valletti MA; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Dianalund, Denmark.; University of Genova, Genova, Italy., Furia F; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Nielsen JEK; Pediatrics Department, Zealand University Hospital, Roskilde, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Gardella E; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Pediatrics Department, Zealand University Hospital, Roskilde, Denmark.; Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark.

Publikováno v: Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2024 Apr; Vol. 26 (2), pp. 219-224. Date of Electronic Publication: 2024 Mar 04.

PRRT2 variants and effectiveness of various antiepileptic drugs in self-limited familial infantile epilepsy

Autor: Zhao, Qianlei, Hu, Ying, Liu, Zhenwei, Fang, Shiyu, Zheng, Feixia, Wang, Xiaoyu, Li, Feng, Li, Xiucui, Lin, Zhongdong

Publikováno v: In Seizure: European Journal of Epilepsy October 2021 91:360-368