Results 61 to 70 of about 355,558 (363)

SCN1A Variants in vaccine‐related febrile seizures: A prospective study

Annals of Neurology, 2019
Febrile seizures may follow vaccination. Common variants in the sodium channel gene, SCN1A, are associated with febrile seizures, and rare pathogenic variants in SCN1A cause the severe developmental and epileptic encephalopathy Dravet syndrome. Following
John A. Damiano, L. Deng, Wenhui Li, R. Burgess, Amy L. Schneider, N. Crawford, J. Buttery, M. Gold, P. Richmond, K. Macartney, M. Hildebrand, I. Scheffer, N. Wood, S. Berkovic   +13 more
semanticscholar   +1 more source

Genetic literacy series: genetic epilepsy with febrile seizures plus.

Epileptic disorders, 2018
Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which affected individuals within a family typically have a variety of epilepsy phenotypes, varying from simple febrile seizures and febrile seizures plus with a good ...
K. Myers, I. Scheffer, S. Berkovic
semanticscholar   +1 more source

Observational Study of Tocilizumab in Children With Febrile Infection‐Related Epilepsy Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to assess the efficacy and safety of using tocilizumab in children with febrile infection‐related epilepsy syndrome (FIRES) and explore tocilizumab‐related changes in interleukin (IL)‐6 levels. Methods Patients with FIRES admitted to the Intensive Care Unit (ICU) of Beijing Children's Hospital were retrospectively ...
Yushan He, Jie Wu, Chaonan Fan, Zheng Li, Jun Liu, Kechun Li, Quan Wang, Suyun Qian   +7 more
wiley   +1 more source

Calcium and Magnesium Levels in Children with Febrile Seizures Admitted in a Tertiary Care Hospital

Pakistan Armed Forces Medical Journal, 2023
Objective: To determine the diagnostic accuracy of hypocalcaemia and hypomagnesaemia in paediatric patients suffering from febrile seizures. Study Design: Cross-sectional validation study.
Atif Naseem Abbasi, Farooq Ikram, Saeed Zaman, Syed Hassan Nawaz, Sammar Hussain, Hassnain Shahid   +5 more
doaj   +1 more source

"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances [PDF]

, 2011
The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited.
Alberto Verrotti, CASTALDO, Rosa, FERRETTI, ALESSANDRO, Filomena Ianniello, Francesco Chiarelli, PAOLINO, MARIA CHIARA, PARISI, Pasquale, VILLA, MARIA PIA   +7 more
core   +2 more sources

Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study)

Human Vaccines & Immunotherapeutics, 2018
Background: Febrile seizure is the most common childhood neurological disorder, is an important health problem with potential short- and long-term complications, also leading to economic burden and increased parental anxiety about fevers and seizures ...
K. Carman, M. Çalık, Y. Karal, S. Işıkay, O. Koçak, Aysima Ozcelik, A. Yazar, Ç. Nuhoğlu, Ç. Sağ, O. Kilic, M. Dinleyici, Sibel Lacinel Gurlevik, S. Yimenicioğlu, A. Ekici, P. Perk, A. Tosun, I. Isik, C. Yarar, D. Arslantaş, E. Dinleyici   +19 more
semanticscholar   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Neocortex- and hippocampus-specific deletion of Gabrg2 causes temperature-dependent seizures in mice

Cell Death and Disease, 2021
Mutations in the GABRG2 gene encoding the γ-aminobutyric acid (GABA) A receptor gamma 2 subunit are associated with genetic epilepsy with febrile seizures plus, febrile seizures plus, febrile seizures, and other symptoms of epilepsy.
Xinxiao Li, Shengnan Guo, Siying Xu, Zhangping Chen, Lei Wang, Jiangwei Ding, Junming Huo, Lifei Xiao, Zhenquan He, Zhe Jin, Feng Wang, Tao Sun   +11 more
doaj   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Differential roles of NaV1.2 and NaV1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures

Scientific Reports, 2018
Dysregulation of voltage-gated sodium channels (VGSCs) is associated with multiple clinical disorders, including febrile seizures (FS). The contribution of different sodium channel subtypes to environmentally triggered seizures is not well understood ...
Mingyu Ye, Jun Yang, Cuiping Tian, Qiyu Zhu, Luping Yin, Shan Jiang, Mingpo Yang, Yousheng Shu   +7 more
semanticscholar   +1 more source