Results 171 to 180 of about 43,499 (332)

Patterns of phosphorylated tau accumulation in a spectrum of acquired and developmental brain lesions associated with refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Phosphorylated tau (pTau) has been reported in surgical resections in refractory epilepsy. It is unclear whether this is activity‐driven physiological pTau or signifies the advent of neurodegenerative cascades, relevant to memory decline.
Alicja Mrzyglod, Anya Mebrouk, Joanna Bartkiewicz, Hanaa El Hachami, Maritchka Ryniejska, Jane de Tisi, Roland Coras, Ingmar Blumcke, Fenglai Xiao, Anna Miserocchi, Andrew McEvoy, Matthias Koepp, Joan Liu, Maria Thom   +13 more
wiley   +1 more source

Gambaran Elektrolit dan Gula Darah Pasien Kejang Demam yang Dirawat di Bangsal Anak RSUP Dr. M. Djamil Periode Januari 2010 - Desember 2012

Jurnal Kesehatan Andalas, 2013
AbstrakKejang demam merupakan kelainan neurologik yang paling sering dijumpai pada anak. Kejang demam merupakan bangkitan kejang yang terjadi pada saat anak demam akibat proses ekstrakranial. Kejang demam terjadi pada suhu rektal >38 C. Penelitian ini
Khairunnisa Imaduddin, Iskandar Syarif, Rahmatini Rahmatini   +2 more
doaj  

Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review. [PDF]

Int J Dev Neurosci
We present a case of a child with a neurodevelopmental disorder associated with a mutation in the STAG1 gene, aiming to raise awareness of this type of disorder. ABSTRACT Background The cohesin complex is a multifunctional unit that plays a crucial role in DNA repair, replication, chromosome segregation, and gene expression.
Zhang Q, Ren Y, Su S, Hu W, Zhang H, Zhang T.   +5 more
europepmc   +2 more sources

Comparing prevalence and characteristic of anemia in children with simple versus complex febrile seizures [PDF]

, 2018
Ali Akbar Momen, Ali Amin Asnafi, Ali Nikkhah, Mohammad Reza Khalilian, Mohammad Mahmudi, Hannaneh Davoodzadeh   +5 more
openalex   +1 more source

Focal epilepsy with sensory seizures associated with arginine:glycine amidinotransferase deficiency: A clinical and advanced magnetic resonance imaging study

Epilepsia, Volume 66, Issue 7, Page e136-e141, July 2025.
Abstract We aim to determine whether epilepsy can be considered part of the arginine:glycine amidinotransferase (AGAT) deficiency syndrome phenotype and to identify its associated electroclinical signatures. We reviewed clinical data from our center, identifying individuals with AGAT deficiency. Each individual underwent a dedicated epilepsy assessment
Francesco Fortunato, Roberta De Fiores, Ilaria Sammarra, Maria Celeste Bonacci, Maria Eugenia Caligiuri, Miriam Sturniolo, Iolanda Martino, Antonio Gambardella   +7 more
wiley   +1 more source

Comparison of children and adults undergoing subdural grid electrode implantation or stereoelectroencephalography in a refractory epilepsy cohort from four European centers

Epilepsia, EarlyView.
Abstract Objective Children with refractory focal epilepsy differ from adults, although many centers will offer invasive electroencephalography (iEEG) to both. Outcomes in terms of likelihood of resection and subsequent seizure outcome after either subdural grid electrode implantation (SDE) or stereoelectroencephalography (SEEG) have, however, not been
Matea Rados, Shanice Beerepoot, Martin M. Tisdall, Ronit M. Pressler, J. Helen Cross, Rachel C. Thornton, Beate Diehl, Andrew W. McEvoy, Anna Miserocchi, Josemir W. Sander, John S. Duncan, Jane de Tisi, Francesco Cardinale, Laura Tassi, Giorgio Lo Russo, Stefano Francione, Herm J. Lamberink, Frans S. S. Leijten, Willem M. Otte, Sandra M. A. van der Salm, Kees P. J. Braun, Pieter van Eijsden   +21 more
wiley   +1 more source

بررسی عوامل خطر در عود تشنج با تب در کودکان مراجعه‌کننده به بيمارستان کودکان حضرت علی‌اصغر(ع) [PDF]

, 2009
زمينه و هدف: تشنج همراه با تب، يکی از مشکلات شايع در کودکان در سنين 5 ماه تا 6 سال است.در برخی مناطق جهان از شيوعی معادل 10% برخوردار می‌باشد،در حالی که آمارجهانی آن 4-2% است.مطالعات جهانی نشان می‌دهد که استفاده از داروهای ضد تشنج مانند فنوباربيتال هر ...
حسنپور اونجی, سید حسین, ضيائی, علیرضا, طاهری درخش, نیما, غفرانی, محمد   +3 more
core  

Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy

Epilepsia, EarlyView.
Abstract Objective SYNGAP1‐related disorders are common neurodevelopmental conditions characterized by autism spectrum disorder, developmental delay, intellectual disability, and a range of generalized seizure types. Disease‐causing variants in SYNGAP1 typically occur de novo. This study aims to characterize inherited cases of SYNGAP1‐related disorders.
Alicia G. Harrison, Jan H. Magielski, Ian McSalley, Shiva Ganesan, Anna J. Prentice, Kristin G. Cunningham, Samuel R. Pierce, Michael J. Boland, Benjamin L. Prosser, Ingo Helbig, Jillian L. McKee   +10 more
wiley   +1 more source

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug‐responsive epilepsy with favorable cognitive outcome

Epilepsia, EarlyView.
Abstract The fibroblast growth factor 12 (FGF12) gene encodes a protein interacting with voltage‐gated sodium channels. Two variants, p.(Arg52His) and p.(Gly50Ser), have repeatedly been associated with developmental and epileptic encephalopathy‐47 (DEE47; Mendelian Inheritance in Man #617166) with poor outcome.
Clément Pierret, Florence Riccardi, Julien Neveu, Marie Alesandrini, Cécilia Altuzarra, Sébastien Boulogne, Maryline Carneiro, Nicolas Chatron, Bertrand Isidor, Laure Lacan, Gaëtan Lesca, Sylvie Nguyen, Diana Rodriguez, Sabrine Souci, Stéphanie Valence, Laurent Villard, Mathieu Milh, Béatrice Desnous   +17 more
wiley   +1 more source

Pediatric Encephalopathy and Complex Febrile Seizures: A Retrospective Analysis

Background: Complex Febrile Seizures (CFS) continues longer, start in one place, or occurs more than once in 24 hours. Convulsions can cause paediatric encephalopathy, a serious neurological condition. Encephalopathy prevalence in children with CFS and its long-term effects remain unknown, even if clinically relevant.
Pooja Mishra, Anshuman, Jayant Prakash
openaire   +2 more sources