Zobrazeno 1 - 10
of 798
pro vyhledávání: '"genetic epilepsy"'
Autor:
Xinxiao Li, Shengnan Guo, Yangyang Sun, Jiangwei Ding, Chao Chen, Yuehui Wu, Peidong Li, Tao Sun, Xinjun Wang
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-21 (2024)
Abstract Genetic epilepsy with febrile seizures plus (GEFS+) is a genetic epilepsy syndrome characterized by a marked hereditary tendency inherited as an autosomal dominant trait. Patients with GEFS+ may develop typical febrile seizures (FS), while g
Externí odkaz:
https://doaj.org/article/ada87dcb2f184d279f487a3ca01b4607
Autor:
Norman Panza, Claudia Bianchini, Valentina Cetica, Simona Balestrini, Carmen Barba, Anna Rita Ferrari, Davide Mei, Lucio Parmeggiani, Elena Parrini, Renzo Guerrini
Publikováno v:
Epilepsia Open, Vol 9, Iss 1, Pp 417-423 (2024)
Abstract Biallelic CNTNAP2 variants have been associated with Pitt‐Hopkins‐like syndrome. We describe six novel and one previously reported patients from six independent families and review the literature including 64 patients carrying biallelic
Externí odkaz:
https://doaj.org/article/7902d28e2bec4967aa4ee69bd3219bff
Publikováno v:
Annals of the Child Neurology Society, Vol 1, Iss 4, Pp 312-319 (2023)
Abstract Background Neonatal autonomic signs such as apnea, cyanosis, pallor, and desaturation rarely occur as isolated ictal phenomena and require a high degree of clinical suspicion in combination with continuous video electroencephalogram (vEEG) t
Externí odkaz:
https://doaj.org/article/9a46cb8415c1416cb51935fab4cbab90
Publikováno v:
Biology Open, Vol 13, Iss 4 (2024)
Externí odkaz:
https://doaj.org/article/a78aba6b825b42bd8451cc4c181641ca
Autor:
María Salcedo-Perez-Juana, Domingo Palacios-Ceña, Ana San-Martín-Gómez, Ángel Aledo-Serrano, Lidiane Lima Florencio
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundDevelopmental and Epileptic Encephalopathies (DEEs) occur in childhood and are associated with severe epileptic seizures and neurological impairment. The aim of this study was to combine quantitative and qualitative methodologies to compreh
Externí odkaz:
https://doaj.org/article/6006edb4fe8846ba8e218a0094c56113
Autor:
Ángel Aledo‐Serrano, Borja Cabal‐Paz, Elena Gardella, Pablo Gómez‐Porro, Otilia Martínez‐Múgica, Alvaro Beltrán‐Corbellini, Rafael Toledano, Irene García‐Morales, Antonio Gil‐Nagel
Publikováno v:
Epilepsia Open, Vol 7, Iss 3, Pp 525-531 (2022)
Abstract SCN8A‐developmental and epileptic encephalopathy is caused by pathogenic variants in the SCN8A gene encoding the Nav1.6 sodium channel, and is characterized by intractable multivariate seizures and developmental regression. Fenfluramine is
Externí odkaz:
https://doaj.org/article/675c36a46849470c8553d727bbee2c7c
Autor:
Marina Trivisano, Ambra Butera, Chiara Quintavalle, Angela De Dominicis, Costanza Calabrese, Simona Cappelletti, Federico Vigevano, Antonio Novelli, Nicola Specchio
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
IntroductionSLC6A1 pathogenic variants have been associated with epilepsy and neurodevelopmental disorders. The clinical phenotype includes different seizure types, intellectual disability, and psychiatric symptoms affecting mood and behavior. Few da
Externí odkaz:
https://doaj.org/article/b143ad6aadad4f88b87f954dee18bc40
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Genetic epilepsy with febrile seizures plus (GEFSP) is a familial epileptic syndrome that is genetically heterogeneous and inherited in an autosomal dominant form in most cases. To date, at least seven genes have been reported to associate with GEFSP
Externí odkaz:
https://doaj.org/article/58f9c611df824b119ab927e848fe690a
Publikováno v:
Brain Sciences, Vol 14, Iss 2, p 188 (2024)
Background: The link between epilepsy and alcohol consumption is complex, with conflicting reports. To enhance our understanding of this link, we conducted a study to determine how inherited seizure susceptibility affects voluntary alcohol consumptio
Externí odkaz:
https://doaj.org/article/7221ccd0563c46a591df094f801e3e5c
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