Zobrazeno 1 - 10
of 350
pro vyhledávání: '"Early Infantile Epileptic Encephalopathy"'
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 15, Iss 4, Pp 354-360 (2023)
Current classification of epileptic syndromes proposed in 2022 by the International League Against Epilepsy, developmental and epileptic encephalopathy (DEE) caused by mutation in the KCNQ2 gene is identified as an independent nosological form. Alter
Externí odkaz:
https://doaj.org/article/9e1f715459754046b7a0e82efc810328
Autor:
Erfan Zaker, Negar Nouri, Mojtaba Movahedinia, Ali Dadbinpour, Mohammad Yahya Vahidi Mehrjardi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background Variants in the Aristaless‐related homeobox (ARX) gene lead to a variety of phenotypes, with intellectual disability being a steady feature. Other features can include severe epilepsy, spasticity, movement disorders, hydranencep
Externí odkaz:
https://doaj.org/article/db7ccf9e361843cfbe9eec97a3e62a3a
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Early infantile epileptic encephalopathy (EIEE) is a group of highly heterogeneous diseases, both phenotypically and genetically. Usually, it starts early on and manifests as intractable epilepsy, abnormal electroencephalogram, an
Externí odkaz:
https://doaj.org/article/dce301e45c71414e8e0cc7fc0883f6ec
Akademický článek
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Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectiveSTXBP1 mutations are associated with early onset epileptic encephalopathy (EOEE). Our aim was to explore the phenotype spectrum, clinical treatment and prognosis of STXBP1-related encephalopathy (STXBP1-E).MethodsClinical and genetic data we
Externí odkaz:
https://doaj.org/article/7c7a0ee99ae44ebfb5d04bb53d974643
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
D. V. I, V. A. Aysina
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 13, Iss 2, Pp 132-139 (2021)
A clinical case of a boy aged 20 months old with early infantile epileptic encephalopathy (EIEE) type 54 due to mutated HNRNPU gene presumably suffering from genetic generalized epilepsy and impaired psychomotor development is described. Exome-wide s
Externí odkaz:
https://doaj.org/article/9350191bc06d42139feeb99b1393f694
Autor:
E. L. Dadali, I. A. Akimova, F. A. Konovalov, P. A. Shatalov, A. Yu. Krasnenko, V. V. Strelnikov, M. A. Ampleeva
Publikováno v:
Русский журнал детской неврологии, Vol 14, Iss 3, Pp 28-36 (2020)
Early infantile epileptic encephalopathies (EIEE) are a group of disorders characterized by pharmacoresistant epileptic seizures manifesting in infancy and leading to psychomotor retardation. The most common genetic variant with X-linked dominant inh
Externí odkaz:
https://doaj.org/article/7d166f3ebe3242d7ac29da480525e283
Autor:
A. A. Kholin, I. D. Fedonyuk, O. P. Dovelman, N. N. Zavadenko, T. V. Kozhanova, E. A. Kholina, G. Sh. Khondkarian, E. S. Il`ina
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 11, Iss 4, Pp 321-334 (2020)
Objective: to analyse the clinical and neurophysiological data from a case of early infantile epileptic encephalopathy type 16 in a child with homozygous mutation in TBC1D24 gene.Material and methods. Female child M. aged 1 year and 2 months, with id
Externí odkaz:
https://doaj.org/article/523b59da7fd948b0b5de1941641f0d9f
Publikováno v:
Children, Vol 10, Iss 4, p 621 (2023)
Phosphofurin Acidic Cluster Sorting Protein 2 (PACS2)-related early infantile developmental and epileptic encephalopathy (EIDEE) is a rare neurodevelopmental disorder. EIDEE is characterized by seizures that begin during the first three months of lif
Externí odkaz:
https://doaj.org/article/5d246d554ebf4f2cbdf14a826ee4207a