Zobrazeno 1 - 10
of 369
pro vyhledávání: '"Myoclonic encephalopathy"'
Autor:
Giulia Spoto, Maria Concetta Saia, Greta Amore, Eloisa Gitto, Giuseppe Loddo, Greta Mainieri, Antonio Gennaro Nicotera, Gabriella Di Rosa
Publikováno v:
Brain Sciences, Vol 11, Iss 10, p 1295 (2021)
Seizures are the most frequent neurological clinical symptoms of the central nervous system (CNS) during the neonatal period. Neonatal seizures may be ascribed to an acute event or symptomatic conditions determined by genetic, metabolic or structural
Externí odkaz:
https://doaj.org/article/3eb4070d93684fcfa2ab75bffa395dfc
Autor:
Mercedes Serrano, Javier Aparicio, J. Hinojosa, Cristiano Parisi, Albert Català, Santiago Candela-Cantó
Publikováno v:
Child's Nervous System. 36:2851-2856
Vagus nerve stimulation (VNS) is a surgical treatment available for patients affected by generalized refractory epilepsy. The authors report the case of a 15-year-old girl affected by CHD2-related myoclonic encephalopathy and BLM haploinsufficiency d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38cf11049821cf8ac31663540c287538
https://doi.org/10.1007/s00381-020-04558-x
https://doi.org/10.1007/s00381-020-04558-x
Autor:
Raffaele Falsaperla, Carla Cimino, Simona Domenica Marino, Lina Maria Ciccia, Andrea D. Praticò, Bruna Scalia, Laura Sciuto, Valeria Venti
Publikováno v:
Journal of Pediatric Neurology. 21:197-202
KCNT1 gene encodes the sodium-dependent potassium channel reported as a causal factor for several different epileptic disorders. The gene has been also linked with cardiac disorders and in a family to sudden unexpected death in epilepsy. KCNT1 mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1d7f182fae13740c515fc2141030a70
https://doi.org/10.1055/s-0041-1728688
https://doi.org/10.1055/s-0041-1728688
Publikováno v:
Open Journal of Pediatrics. 11:339-350
Background: The epileptic encephalopathies collectively exact an immense personal, medical, and financial toll on the affected children, their families, and the healthcare system. Objective: This study was aimed to delineate the clinical spectrum of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9af6de63955dfb4e56241ff41b4aee91
https://doi.org/10.4236/ojped.2021.113031
https://doi.org/10.4236/ojped.2021.113031
Autor:
Greta Mainieri, Greta Amore, Giulia Spoto, Gabriella Di Rosa, Eloisa Gitto, Antonio Gennaro Nicotera, Maria Concetta Saia, Giuseppe Loddo
Publikováno v:
Brain Sciences
Brain Sciences, Vol 11, Iss 1295, p 1295 (2021)
Brain Sciences, Vol 11, Iss 1295, p 1295 (2021)
Seizures are the most frequent neurological clinical symptoms of the central nervous system (CNS) during the neonatal period. Neonatal seizures may be ascribed to an acute event or symptomatic conditions determined by genetic, metabolic or structural
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16d18a8dee6f7106f9f1f84725a821a0
https://pubmed.ncbi.nlm.nih.gov/34679360
https://pubmed.ncbi.nlm.nih.gov/34679360
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Transl Pediatr
The RARS2 gene encodes mitochondrial arginine-tRNA synthetase. Patients with variants of the RARS2 gene have pontocerebellar hypoplasia type 6 (PCH6), which is characterized by early onset seizures, progressive microcephaly, and developmental delay.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dceded5cd974a61658fe6cfe7c1a01dd
https://doi.org/10.21037/tp-20-110
https://doi.org/10.21037/tp-20-110
Publikováno v:
Journal of the Formosan Medical Association, Vol 111, Iss 5, Pp 290-294 (2012)
Epileptic encephalopathy with suppression-burst in electroencephalography (EEG) can evolve into a few types of epileptic syndromes. We present here an unusual case of early myoclonic encephalopathy that evolved into migrating partial seizures in infa
Externí odkaz:
https://doaj.org/article/167b321d64944924a98ece379cfe873c
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Scientific Reports
Scientific Reports
To analyze the relationship between the characteristics of burst suppression (BS) pattern and different etiologies in epilepsy. Patients with a BS pattern who were younger than 6 months old were screened from our electroencephalogram (EEG) database.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2814187095d593970e54da7d08faa189
https://doi.org/10.1038/s41598-021-95040-4
https://doi.org/10.1038/s41598-021-95040-4