Results 31 to 40 of about 546,706 (238)

Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation

Epilepsy & Behavior Reports, 2023
Developmental and epileptic encephalopathies (DEE) are conditions in which a mutated gene may cause abnormal functioning of the central nervous system, resulting in both encephalopathy and epileptogenesis.
L. Parmeggiani, F. Stanzial, E. Menna, E. Boni, F. Manzoni, F. Benedicenti, S. Pellegrin   +6 more
doaj   +1 more source

Comparison of Parents’ Anxiety Levels During Febrile Seizure and Epileptic Convulsion [PDF]

Introduction: In childhood, convulsions are common neurological conditions in pediatric emergency service and cause stress in both families and healthcare professionals.
Ayla Akca Çağlar, Halise Akça, Selma Tural Hesapçıoğlu, Can Demir Karacan, Aysun Tekeli, Ayşegül Neşe Çıtak Kurt   +5 more
core   +1 more source

The first febrile seizure; predisposing factors and recurrence rate [PDF]

, 2021
  Objective Febrile seizure is the most common worrisome neurologic disorder in children in terms of parental point of view. The purpose of this study was to answer distressing parents’ questions about the prevalence and possibility of febrile ...
Fallah, Ramazan, Badv, Reza Shervin, Vafaee shahi, Mohammad, Piri, Ali, Shervin BADV, Reza, Tahernia, Leila, Kazemi, Alinaghi   +6 more
core   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Temperature, age, and recurrence of febrile seizure [PDF]

, 1998
OBJECTIVE: Prediction of a recurrent febrile seizure during subsequent episodes of fever. DESIGN: Study of the data of the temperatures, seizure recurrences, and baseline patient characteristics that were collected at a randomized ...
Steyerberg, E.W. (Ewout), Stuijvenberg, M. (Margriet) van, Moll, H.A. (Henriëtte), Derksen-Lubsen, G. (Gerarda)   +3 more
core   +2 more sources

Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4

Children, 2020
Febrile seizure (FS) is related to a febrile illness (temperature > 38 °C) not caused by an infection of central nervous system, without neurologic deficits in children aged 6–60 months.
Ji Yoon Han, Hyun Joo Lee, Young-Mock Lee, Joonhong Park   +3 more
doaj   +1 more source

Splenic Tropism and Spleen‐Modulated Systemic Inflammation in Acute Plasmodium vivax Malaria

American Journal of Hematology, EarlyView.
ABSTRACT In chronic Plasmodium vivax (Pv) infection, the spleen accounts for over 98% of total‐body parasite biomass. Whether splenic tropism also occurs in acute infection and how the spleen influences pathogenesis have not been systematically explored. In Papua, Indonesia, we compared clinical and hematology data in 24 spleen‐intact and 25 previously
Steven Kho, Hasrini Rini, Noy N. Kambuaya, Syawal Satria, Freis Candrawati, Putu A. I. Shanti, King Alexander, Benediktus Andries, Aisah R. Amelia, Anjana Rai, Kim A. Piera, Agatha M. Puspitasari, Ristya Amalia, Pak Prayoga, Leo Leonardo, Maulina Hafidzah, Theo Situmorang, Dewi S. Margayani, Desandra A. Rahmayenti, Pengxing Cao, Enny Kenangalem, Leily Trianty, Damian Oyong, Julie A. Simpson, Rintis Noviyanti, Pierre A. Buffet, Jeanne R. Poespoprodjo, Nicholas M. Anstey   +27 more
wiley   +1 more source

Validity of Serum Sodium and Calcium Screening in Children [PDF]

Acta Medica Iranica, 2009
Febrile convulsion (FC) is the most common seizure disorder in young children. Different predisposing factors have been suggested to enhance the susceptibility to febrile seizure and its recurrence.
Nickavar Azar, Hasanpour Hosein, Sotoudeh Kambiz   +2 more
doaj   +2 more sources

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Nanoparticle encapsulated oxytocin increases resistance to induced seizures and restores social behavior in Scn1a-derived epilepsy

Neurobiology of Disease, 2021
Oxytocin (OT) has broad effects in the brain and plays an important role in cognitive, social, and neuroendocrine function. OT has also been identified as potentially therapeutic in neuropsychiatric disorders such as autism and depression, which are ...
Jennifer C. Wong, Lindsey Shapiro, Jacquelyn T. Thelin, Elizabeth C. Heaton, Rokon U. Zaman, Martin J. D'Souza, Kevin S. Murnane, Andrew Escayg   +7 more
doaj   +1 more source