Results 151 to 160 of about 5,291,503 (235)

Intermittent hyperinsulinemic hypoglycemia due to a <i>KCNJ11</i> nonsense mutation in a child with febrile status epilepticus. [PDF]

JCEM Case Rep
Otaka T, Kubo M, Koyama S.
europepmc   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1878-1892, September 2026.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Association of respiratory viral detection with complex febrile seizures and hospitalisation in children after the COVID-19 pandemic: a retrospective observational study. [PDF]

BMJ Paediatr Open
Song HY, Paek SH, Kwon JH, Park SH, Kim MJ, Byun YH, Kim JH, Kim SH.   +7 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

GC–MS‐Based Phytochemical Profiling and Integrated Evaluation of Antioxidant, Antibacterial, and In Silico Studies of Kumaun Himalayan Strobilanthes Species

Chemistry &Biodiversity, Volume 23, Issue 9, September 2026.
Himalayan Strobilanthes species: phytochemical profiling, bioactivities, and In silico Studies. ABSTRACT Five Strobilanthes species indigenous to the Kumaun Himalayan region of Uttarakhand, India, have been historically employed in traditional medicine to treat bacterial infections, inflammatory conditions, and respiratory ailments, but remain largely ...
Sakshi Negi, Ravendra Kumar, Vaishnavi Rawat, Pooja Bargali, Aashish Kumar Sagar, Stefania Garzoli, Riddhiman Lahiri, Shilpi Rawat, Avdhesh Kumar, Manmohan Singh Rawat, Jolanta Maslowiecka, Valery A. Isidorov, Dharmendra S. Rawat   +12 more
wiley   +1 more source

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort. [PDF]

Hum Genet
Szalai R, Till A, Galimurka K, Banfai Z, Zsigmond A, Hadzsiev K.   +5 more
europepmc   +1 more source

Suprasellar Desmoplastic Infantile Ganglioglioma in a 7‐Month‐Old Infant: A Rare Diagnostic Consideration in Infant Suprasellar Masses

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Desmoplastic infantile ganglioglioma should be considered when an infant presents with a suprasellar mass, nystagmus, and developmental delay. Deep midline location limits resection, so BRAF V600E testing matters: it can open a targeted treatment option when surgery cannot control the disease.
Tawfiq Zuhair Abdullah Allaylah
wiley   +1 more source

The genotypic spectrum of complex febrile seizures: insights from high-risk population genetic screening in a pediatric cohort. [PDF]

Front Neurosci
Deng X, Xu Y, Chen X, Pan J, Huang S, Sun D.   +5 more
europepmc   +1 more source

“The Most Difficult Conversations We Have”: Resident Experiences With Pediatric Neuroprognostication

Annals of the Child Neurology Society, Volume 4, Issue 3, Page 227-238, September 2026.
ABSTRACT Objective Pediatric neuroprognostication is often complicated by uncertainty and embedded in high‐stakes medical decisions. For child neurology residents, participation in neuroprognostication can represent key learning experiences but also comes with emotional and ethical challenges, which poses a risk of moral distress.
Grant L. Lin, Beatrice D. White, Shelby D. Burk, Jessica A. Moriarty, David B. Mauser, Claire E. Wakefield, Courtney J. Wusthoff, Justin N. Baker   +7 more
wiley   +1 more source

Recurrence of febrile convulsions in children treated with intermittent benzodiazepines: a retrospective study investigating predisposing factors. [PDF]

BMC Pediatr
Ahmadi S, Mosayebi N, Akbari A, Zahedi A, Ahmadi S, Memar EHE.   +5 more
europepmc   +1 more source