Zobrazeno 1 - 10
of 103
pro vyhledávání: '"generalized tonic seizures"'
Autor:
Da-Eun Kim, Jeong-Hwan Yang, Jinseok Lee, Hyeryun Yeh, Jae Yoon Na, I-Seok Kang, Jinyoung Song
Publikováno v:
Pediatric Emergency Medicine Journal. 7:127-130
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ecd954a9bcd3e7cb66cfb4d42e76b52b
https://doi.org/10.22470/pemj.2020.00087
https://doi.org/10.22470/pemj.2020.00087
We present a case report of a 23-year old male with newly diagnosed epilepsy manifested with generalized tonic seizures. Levetiracetam (LEV) was started and the patient was seizure free. The patient demonstrated intermediate chronotype determined by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be19bd0ee0de0e0bba4a865ab75a276
Autor:
Jerica Lenberg, Zaira Bezares-Orin, Kevin K Chau, Mallory J Owen, Shimul Chowdhury, Annette Feigenbaum, Stephen F. Kingsmore, Yan Ding, Jeffrey P. Gold
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Rapid whole-genome sequencing (rWGS) has shown that genetic diseases are a common cause of infant mortality in neonatal intensive care units. Dried blood spots collected for newborn screening allow investigation of causes of infant mortality that wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32329bbd2e9eaea4a67eeb2b6453910b
https://pubmed.ncbi.nlm.nih.gov/34117075
https://pubmed.ncbi.nlm.nih.gov/34117075
Autor:
Ingrid E. Scheffer, Susan M Carden, Michael S. Hildebrand, Anthony J. Penington, Samuel F. Berkovic, Timothy E Green, Rebekah V Harris, Duncan MacGregor, Chelsee A. Hewitt
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Nevus sebaceous syndrome (NSS) is a rare, multisystem neurocutaneous disorder, characterized by a congenital nevus, and may include brain malformations such as hemimegalencephaly or focal cortical dysplasia, ocular, and skeletal features. It has been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b4d269a4d3b26e33426fa9b84dc6432
http://europepmc.org/articles/PMC8751419
http://europepmc.org/articles/PMC8751419
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism
Annals of Pediatric Endocrinology & Metabolism, Vol 23, Iss 2, Pp 103-106 (2018)
Annals of Pediatric Endocrinology & Metabolism, Vol 23, Iss 2, Pp 103-106 (2018)
Phosphate is essential in regulating human metabolic processes, and severe hypophosphatemia can induce neurologic and hematological complications and result in respiratory failure and cardiac dysfunction. Therefore, correction of severe hypophosphate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0165fbdeb73d50b57a2b03b6b6d191a
https://doi.org/10.6065/apem.2018.23.2.103
https://doi.org/10.6065/apem.2018.23.2.103
Publikováno v:
Journal of Pediatric Neurology. 15:171-174
The incidence of seizure in first year of life is very high. Considerable research on neonatal seizures has been done; however information regarding the profile of patients with first time seizure in the age group of 1 to 12 months is scarce. Our stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac3e674d0fc991f8c812119d59bcae56
https://doi.org/10.1055/s-0037-1603560
https://doi.org/10.1055/s-0037-1603560
Autor:
Sandra M. Díaz-Rodríguez, Daniel López-López, Manuel J. Herrero-Turrión, Ricardo Gómez-Nieto, Angel Canal-Alonso, Dolores E. Lopéz
Publikováno v:
Frontiers in Neuroscience
Frontiers in Neuroscience, Vol 14 (2020)
Frontiers in Neuroscience, Vol 14 (2020)
The Genetic Audiogenic Seizure Hamster from Salamanca (GASH/Sal), an animal model of reflex epilepsy, exhibits generalized tonic–clonic seizures in response to loud sound with the epileptogenic focus localized in the inferior colliculus (IC). Ictal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fbf65a366258defa542f59096c042c6
https://pubmed.ncbi.nlm.nih.gov/32528245
https://pubmed.ncbi.nlm.nih.gov/32528245
Autor:
Shimul Chowdhury, David Dimmock, Nanda Ramchandar, Charlotte A. Hobbs, Yan Ding, Stephen F. Kingsmore, Kiely N. James, Shareef Nahas, Anna-Kaisa Niemi, Annette Feigenbaum, Wendy Benson
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Neonatal encephalopathy with seizures is a presentation in which rapid whole-genome sequencing (rWGS) has shown clinical utility and improved outcomes. We report a neonate who presented on the third day of life with seizures refractory to antiepilept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4820ad3c2cb35c309764e1f61373d15c
http://europepmc.org/articles/PMC6996516
http://europepmc.org/articles/PMC6996516
Autor:
Ayako Yamamoto, Naomichi Matsumoto, Kazushi Ichikawa, Azusa Ikeda, Megumi Tsuji, Yumi Enomoto, Satoko Miyatake, Hiroaki Murakami, Yu Tsuyusaki, Tomohide Goto, Kenji Kurosawa, Mizue Iai
Publikováno v:
Epilepsy & Behavior Reports
Epilepsy & Behavior Reports, Vol 13, Iss, Pp-(2020)
Epilepsy & Behavior Reports, Vol 13, Iss, Pp-(2020)
Christianson syndrome (CS) is an X-linked intellectual disorder caused by mutations in the SLC9A6 gene. Clinical features of CS include an inability to speak, truncal ataxia, postnatal microcephaly, hyperkinesis, and epilepsy. Almost all patients wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b654918540466f5fc67d716f3296b2e9
https://pubmed.ncbi.nlm.nih.gov/31879735
https://pubmed.ncbi.nlm.nih.gov/31879735
Autor:
Gianluigi Laccetta, Simona Fiori, Matteo Giampietri, Annarita Ferrari, Valentina Cetica, Manuela Bernardini, Francesca Chesi, Sara Mazzotti, Elena Parrini, Massimiliano Ciantelli, Andrea Guzzetta, Paolo Ghirri
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Frontiers in Pediatrics
Frontiers in Pediatrics
Among neonatal epileptic syndromes, benign familial neonatal seizures (BFNS) are often due to autosomal-dominant mutations of the KCNQ2 gene. Seizures are usually characterized by asymmetric tonic posturing with apnea with onset in the first 7 days o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27b212e760e37857a3fde10ba4e42fdc
https://doi.org/10.3389/fped.2019.00348
https://doi.org/10.3389/fped.2019.00348