Zobrazeno 1 - 10
of 393
pro vyhledávání: '"Infantile epilepsy"'
Autor:
Henna Jonsson, Eija Gaily, Susanna Stjerna, Tarja Joensuu, Mridul Johari, Anna‐Elina Lehesjoki, Tarja Linnankivi
Publikováno v:
Epilepsia Open, Vol 9, Iss 4, Pp 1393-1405 (2024)
Abstract Objective Infantile seizures cause great concern for both doctors and parents. In addition to modern neuroimaging and genetics, clinical tools helpful in predicting the course of the disease are needed. We prospectively studied the incidence
Externí odkaz:
https://doaj.org/article/52fbf41dd5b54ed2911052d15e88208d
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundWWOX-related epileptic encephalopathy is an autosomal recessive disorder caused by mutations in the WW-containing oxidoreductase gene, characterized by the onset of refractory seizures in infants. Early-onset epilepsy, electroencephalograph
Externí odkaz:
https://doaj.org/article/a5db56f2fe3e4f64a2f717fac9b0b559
Publikováno v:
Pediatric Discovery, Vol 2, Iss 2, Pp n/a-n/a (2024)
Abstract Benign convulsions with mild gastroenteritis (CwG) characterized by afebrile seizures that occurred in the acute period of mild gastroenteritis often occur in infancy and toddlers. Until now, it has not been well acknowledged and thereby cla
Externí odkaz:
https://doaj.org/article/bdf0d55f51434a81ab76da6d9586f522
Publikováno v:
Archives of Epilepsy, Vol 29, Iss 4, Pp 121-125 (2023)
Variations in the PRRT2 gene have been shown to cause a variety of diseases, including benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD). Next-generation sequencing techniques have allowed the broadening of this di
Externí odkaz:
https://doaj.org/article/8c742351b3444bba8d5101c628e36551
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 436-443 (2023)
Abstract Objective Self‐limited infantile epilepsy (SeLIE) has distinctive clinical features, and the PRRT2 gene is known to be a considerable genetic cause. There have been a few studies on PRRT2‐positive SeLIE only, and anti‐seizure medicatio
Externí odkaz:
https://doaj.org/article/cf501b6fc67549cc926ca3a4435a859b
Autor:
Yang Tian, Zhen Shi, Jiahao Cai, Chi Hou, Xiuying Wang, Haixia Zhu, Binwei Peng, Kaili Shi, Xiaojing Li, Sitang Gong, Wen-Xiong Chen
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Introduction Self-limited infantile epilepsy (SeLIE) is a benign epilepsy. Previous studies have shown that monotherapy with most antiseizure medications can effectively relieve seizures in patients with SeLIE, but the efficacy of levetirace
Externí odkaz:
https://doaj.org/article/8db8de7e904c408b91a6aae16caab4f5
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 1, p 253 (2023)
16p11.2 copy number variations (CNVs) are increasingly recognized as one of the most frequent genomic disorders, and the 16p11.2 microdeletion exhibits broad phenotypic variability and a diverse clinical phenotype. We describe the neurodevelopmental
Externí odkaz:
https://doaj.org/article/4f8aa667905e4868969df6090879e929
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
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