Results 101 to 110 of about 11,674 (220)

Alice in wonderland syndrome. a clinical and pathophysiological review [PDF]

, 2016
Alice in Wonderland Syndrome (AIWS) is a perceptual disorder, principally involving visual and somesthetic integration, firstly reported by Todd, on the literary suggestion of the strange experiences described by Lewis Carroll in Alice in Wonderland ...
DI PIERO, Vittorio, Mancini, Valentina, Mastria, Giulio, Vigano', Alessandro   +3 more
core   +3 more sources

Sudden unexpected death in epilepsy (SUDEP): Risk management of pediatric patients with epilepsy

Epilepsia Open, Volume 11, Issue 2, Page 422-434, April 2026.
Abstract Objective Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in people with epilepsy with an incidence of 1:1000. The primary risk factors for SUDEP are generalized or focal to bilateral tonic–clonic seizures. Preventive measures like nighttime monitoring devices and resuscitation training address modifiable risk factors.
Laura Lutz, Lena Luise Becker, Alwina Koch, Angela M. Kaindl   +3 more
wiley   +1 more source

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. [PDF]

, 2007
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed
AZZEDINE H, BERTINI E, BOUSLAM N, BRICE A., CHARLES P, CHOMILIER J, CONFAVREUX C, COUTINHO P, CRUZ VT, DENORA PS, DURR A, ELLEUCH N, FILLA, ALESSANDRO, FONTAINE B, GRID D, LEGUERN E, LOSSOS A, LOUREIRO, JL, MARTIN E, OUVRARD HERNANDEZ AM, RUBERG M, SANTORELLI FM, STEVANIN G, TAZIR M, TESSA A   +24 more
core  

Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes [PDF]

, 2016
Objective: The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever ...
Altmüller, J. (Janine), Balestri, M. (Martina), Balling, R. (Rudi), Baulac, S. (Stephanie), Becker, F. (Felicitas), Bianchi, A. (Amedeo), Caglayan, H. (Hande), Cilio, M.R. (Maria Roberta), Dejanovic, B. (Borislav), Duijn, C.M. (Cornelia) van, Everett, K. (Kate), Feucht, M. (Martha), Geldner, J. (Julia), Giuseppe, C. (Capovilla), Gormley, A.M., Gruber-Sedlmayr, U. (Ursula), Haberlandt, E. (Edda), Hahn, A. (Andreas), Helbig, I. (Ingo), Hjalgrim, H. (Helle), Hofman, A. (Albert), Ikram, M.A. (Arfan), Jabbari, K. (Kamel), Koeleman, B.P.C. (Bobby), Krause, R. (Roland), Kunz, W. (Wolfram), Kunz, W.S. (Wolfram S.), La Neve, A. (Angela), Lal, D. (Dennis), Lehesjoki, A.E., Lemke, J.R. (Johannes R.), Lerche, H. (Holger), May, P. (Patrick), Minetti, C., Muhle, H. (Hiltrud), Møller, R.S. (Rikke), Nabbout, R. (Rima), Neophytou, B. (Birgit), Neubauer, B.A. (Bernd A.), Nothnagel, M. (Michael), Nürnberg, P. (Peter), Palotie, A. (Aarno), Reinthaler, E.M. (Eva M.), Riesch, E. (Erik), Ronen, G.M. (Gabriel M.), Ruppert, A.-K. (Ann-Kathrin), Sander, T. (Thomas), Schubert, J. (Julian), Schulz, H. (Herbert), Schwarz, G. (Günter), Siren, A. (Auli), Steinböck, H. (Hannelore), Striano, P. (Pasquale), Suls, A. (A.), Thiele, H. (Holger), Uitterlinden, A.G. (André), Weber, Y.G. (Yvonne G.), Zara, F. (Federico), Zimprich, F. (Fritz)   +58 more
core   +1 more source

Infants' General Movements Were Not Affected by Exposure to Maternal Severe Acute Respiratory Syndrome Coronavirus 2 Infections

Acta Paediatrica, Volume 115, Issue 4, Page 913-922, April 2026.
ABSTRACT Aim Prenatal maternal infections may impair infant brain development. This study investigated the effect of maternal infections with the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) during pregnancy on infant neurodevelopment by assessing general movements (GMs).
Kathrin Neumayr, Katharina Lippert, A. Sebastian Schroeder, Vinzenz G. Eck, Uta Tacke, Sevil Üzer, Andreas W. Flemmer, Mathias Klemme, Claudia Nussbaum, Nikolas Hesse, Sergi Pujades, Leander Behr, Sonja Strieker, Florian Heinen, Mirjam N. Landgraf   +14 more
wiley   +1 more source

Symptomatic seizures in preterm newborns: a review on clinical features and prognosis [PDF]

, 2018
Neonatal seizures are the most common neurological event in newborns, showing higher prevalence in preterm than in full-term infants. In the majority of cases they represent acute symptomatic phenomena, the main etiologies being intraventricular ...
Corsello G, Deolmi M, Falsaperla R, Pisani F, Spagnoli C   +4 more
core   +2 more sources

To the Reviewers of Neuropediatrics in 2019 [PDF]

Neuropediatrics, 2020
Barbara, Plecko, Nicole I, Wolf, Bernd A, Neubauer   +2 more
openaire   +2 more sources

De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

, 2019
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder.
Au, C., Baker, S., Bergstrom, K., Bodek, S., Brunner, H., Cunniff, C., Dentici, M., Derizioti, P., Faivre, L., Firth, H., Fisher, S., Gilissen, C., Iglesias, A., Izumi, K., Kleefstra, T., Kroes, H., Lachmeijer, A., Leonard, J., Maas, S., Matsumoto, N., Miyake, N., Niceta, M., Okamoto, N., Pfundt, R., Philippe, C., Powis, Z., Shinde, D., Snijders Blok, L., Tang, S., Tartaglia, M., Tayoun, A., Tomkins, S., Van Gassen, K., Venselaar, H., Vitobello, A., Wiel, L., Wojcik, M., Õunap, K.   +37 more
core   +1 more source

The Cerebellum and SIDS: Disordered Breathing in a Mouse Model of Developmental Cerebellar Purkinje Cell Loss during Recovery from Hypercarbia. [PDF]

, 2016
The cerebellum assists coordination of somatomotor, respiratory, and autonomic actions. Purkinje cell alterations or loss appear in sudden infant death and sudden death in epilepsy victims, possibly contributing to the fatal event. We evaluated breathing
Calton, Michele A, Goldowitz, Dan, Harper, Ronald M, Howard, Jeremy R, Mittleman, Guy   +4 more
core   +2 more sources

Abnormal theta-band rhythm: EEG abnormality as potential biomarkers for disease severity in pediatric anti-NMDAR encephalitis

Epilepsy & Behavior Reports
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in children often requires early immunosuppressive therapy before antibody detection. While various electroencephalogram (EEG) patterns, including extreme delta brushes (EDBs), have been reported in
Yumie Tamura, Mitsumasa Fukuda, Akihiko Ishiyama, Hiroya Nishida, Hirofumi Kashii, Hideaki Mashimo, Kenji Inoue, Hiroshi Sakuma, Satoko Kumada   +8 more
doaj   +1 more source