Results 111 to 120 of about 2,345,783 (392)

Epileptic syndrome in the clinical picture of the diseaseand the level of antibodies to GluR1 subunit of AMPA glutamate receptors in the patients with gliomas in the cerebral hemispheres of a brain

Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, 2013
The authors examined 92 patients with gliomas in the cerebral hemispheres. The immunoenzyme method was used for semiquantitative assay of the level of autoantibodies to GluR1 subunit of AMPA receptors of glutamate.
V. N. Ochkolyas, A. F. Gurchin, A. A. Skoromets, A. V. Kostyukevich   +3 more
doaj   +1 more source

A peculiar family with recurrent self-limited epileptic syndrome and associated developmental disorders in six girls. [PDF]

Epilepsy Behav Rep, 2022
Cursio I, Ronzano N, Asunis M, Dettori MS, Cossu S, Murru S, Cau M, Incani F, Mei D, Bianchini C, Scioni M, Pruna D.   +11 more
europepmc   +1 more source

Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. [PDF]

, 2014
Seizures are clinically significant manifestations associated with 79%-90% of patients with tuberous sclerosis complex. Often occurring within the first year of life in the form of infantile spasms, seizures interfere with neuropsychiatric, social, and ...
Fallah, Aria, Wang, Shelly
core   +2 more sources

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Metabolism peritumorous zone and alteration AMPAand NMDA-glutamate receptors in the pathogenesis of gliomas of the cerebral hemispheres

Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, 2014
Examined 12 patients with gliomas of the big hemispheres of a brain. Used immunoenzyme method for semiquantitative determination of the level of autoantibodies to NR2A-subunit of NMDA- and GluR1-subunit of AMPA-receptors of glutamate.
V. N. Ochkolyas, G. V. Kataeva
doaj   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Аlterationdegree of NMDA and AMPA receptors of glutamate in the pathogenesis of the disease and technological peculiarities of surgical treatment of the hemispheric glioma-swith the epileptic syndrome

Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, 2014
The development of effective approaches to the treatment of patients with symptomatic tumor epilepsy was determined by the level of our fundamental knowledge of the basic mechanisms of epileptogenesis on cellular and molecular level.
V. N. Ochkolyas, M. B. Volov
doaj   +1 more source

Network Properties Revealed during Multi-Scale Calcium Imaging of Seizure Activity in Zebrafish. [PDF]

, 2019
Seizures are characterized by hypersynchronization of neuronal networks. Understanding these networks could provide a critical window for therapeutic control of recurrent seizure activity, i.e., epilepsy.
Baraban, Scott C, Liu, Jing
core   +1 more source

Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome

American Journal of Hematology, EarlyView.
D. Mark Layton, Barbara J. Bain
wiley   +1 more source