Zobrazeno 1 - 10
of 3 642
pro vyhledávání: '"encephalopathies"'
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-5 (2024)
Abstract Background Vitamin B12 deficiency is a recognised cause of neurological manifestations, including peripheral neuropathy, behavioural changes, and seizures. However, developmental and epileptic encephalopathy due to vitamin B12 deficiency is
Externí odkaz:
https://doaj.org/article/db797437587a4bea804680486e16e34c
Publikováno v:
Case Reports in Neurology, Vol 16, Iss 1, Pp 226-232 (2024)
Introduction: Epilepsy is one of the most common neurological disorders present in sub-Saharan Africa and most of these cases are underdiagnosed due to a lack of resources. Epileptic encephalopathies are a broad spectrum of seizure disorders characte
Externí odkaz:
https://doaj.org/article/9ce3839c1808422291171a7ea000fa25
Autor:
Salia Bamba, Lala Sidibé, Seybou H. Diallo, Lassana Cissé, Kékouta Dembélé, Abdoulaye Yalcouyé, Weizhen Ji, Mohamed Emile Dembélé, Salimata Diarra, Alassane dit Baneye Maiga, Oumou Traoré, Salimata Diallo, Samuel Ephrata Mefoung, Amadou Touré, Adama Koné, Lauren Jeffries, Cheick O. Guinto, Emily K. Mis, Kenneth H. Fischbeck, Mustafa K. Khokha, Saquib A. Lakhani, Guida Landouré
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background and ObjectivesDevelopmental and epileptic encephalopathies (DEEs) are a group of neurological disorders characterized by early-onset seizures that are often resistant to treatment, by electroencephalographic abnormalities, and by developme
Externí odkaz:
https://doaj.org/article/79262882c788440abcc222bde68735db
Autor:
María Miguel-Garcés, Rita Gonçalves, Rodrigo Quintana, Patricia Álvarez, Katrin M. Beckmann, Emili Alcoverro, Melania Moioli, Edward J. Ives, Megan Madden, Sergio A. Gomes, Evelyn Galban, Tim Bentley, Koen M. Santifort, An Vanhaesebrouck, Chiara Briola, Patricia Montoliu, Unai Ibaseta, Inés Carrera
Publikováno v:
Frontiers in Veterinary Science, Vol 11 (2024)
Metabolic/neurodegenerative encephalopathies encompass a wide list of conditions that share similar clinical and magnetic resonance imaging (MRI) characteristics, challenging the diagnostic process and resulting in numerous tests performed in order t
Externí odkaz:
https://doaj.org/article/c418a03b08d34ba1a4ad2adbaeef80fa
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-7 (2024)
Abstract Background As the Omicron variant of the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) emerges, the neurological manifestations correlated with this epidemic have garnered increasing attention. This study was primarily intende
Externí odkaz:
https://doaj.org/article/65f6319e1c6a4ef3affee4aa372862ab
Autor:
Patryk Lipiński, Katarzyna Wójcicka-Kowalczyk, Anna Bogdańska, Ewa Ehmke, Magdalena Pajdowska, Katarzyna Skrzypek, Agnieszka Charzewska, Dorota Hoffman-Zacharska
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
The first-tier genetic testing for developmental and epileptic encephalopathies (DEE) is now increasingly used in routine clinical practice. Antiquitin deficiency, also referred to as pyridoxine-dependent epilepsy (PDE-ALDH7A1), represents an inherit
Externí odkaz:
https://doaj.org/article/1e2c7a65f519419d9227e5651b457b27
Publikováno v:
Heliyon, Vol 10, Iss 15, Pp e35108- (2024)
Introduction: Pediatric video-EEG monitoring is a standard procedure in epilepsy clinics, typically conducted in in-hospital settings.However, hospitalizationis sometimesunnecessary and imposes a burden on children and their families. In response to
Externí odkaz:
https://doaj.org/article/44ea8f0940684b01a9eca960a0d1e5be
Autor:
Marisa Armeno, Silvana Calligaris, Daniela Gagiulo, Araceli Cresta, Maria Magdalena Vaccarezza, Cecilia Griselda Diez, Maria Julia Alberti, Rocio Viollaz, Francisco Vilavedra, Roberto H. Caraballo
Publikováno v:
Epilepsia Open, Vol 9, Iss 1, Pp 138-149 (2024)
Abstract Objective There is growing evidence that ketogenic dietary therapy (KDT) can be safely and efficiently used in young children, but little evidence exists on its use in newborns. Developmental and epileptic encephalopathies starting in the ne
Externí odkaz:
https://doaj.org/article/c6e9a99b3dbe447582b7bc27a69573cd
Publikováno v:
Brain and Behavior, Vol 14, Iss 5, Pp n/a-n/a (2024)
Abstract Background Several biallelic truncating and missense variants of the gem nuclear organelle–associated protein 5 (GEMIN5) gene have been reported to cause neurodevelopmental disorders characterized by cerebellar atrophy, intellectual disabi
Externí odkaz:
https://doaj.org/article/5c14682b5e004721b44781e419b2c3bb
Autor:
K. V. Duve
Publikováno v:
The Ukrainian Biochemical Journal, Vol 95, Iss 5, Pp 76-84 (2023)
Questions related to the disruption of vasoregulatory processes as essential factor in neurological pathology require further study. The leading role in the vasoregulatory mechanisms is played by endothelial NO synthase which gene has 15 allelic vari
Externí odkaz:
https://doaj.org/article/19d2a1761120432ea264d3ca1a0144f5