Results 91 to 100 of about 41,822 (309)

Connexin36 knockout mice display increased sensitivity to pentylenetetrazol-induced seizure-like behaviors [PDF]

, 2010
Large-scale synchronous firing of neurons during seizures is modulated by electrotonic coupling between neurons via gap junctions. To explore roles for connexin36 (Cx36) gap junctions in seizures, we examined the seizure threshold of connexin36 knockout (
Cursons, Raymond T., Jacobson, Gregory M., Mason, Jonathan P., Melin, Sofia M., Sleigh, James W., Steyn-Ross, D. Alistair, Steyn-Ross, Moira L., Voss, Logan J.   +7 more
core   +2 more sources

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

ANOMALIES ON EEG IN PATIENTS WITH COGNITIVE EPILEPTIFORM DISINTEGRATION AND EPILEPTIC ENCEPHALOPATHIES, ASSOCIATED WITH С BENIGN EPILEPTIFORM PATTERNS OF CHILDHOOD

Русский журнал детской неврологии, 2015
On background of review and discussion of current scientific literature è own data the article presents the main clinical characteristics and anomalies on EEG in patients with cognitive epileptiform disintegration and epileptic encephalopathies ...
M. B. Mironov
doaj   +1 more source

Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone, Claudia Rigamonti, Francesca Brasca, Donatella Milani, Chiara Ranci Ortigosa, Maria Iascone, Lucrezia Goisis, Annalaura Torella, Maria Antonella Costantino   +8 more
wiley   +1 more source

Critical role of canonical transient receptor potential channel 7 in initiation of seizures [PDF]

, 2014
Status epilepticus (SE) is a life-threatening disease that has been recognized since antiquity but still causes over 50,000 deaths annually in the United States.
Abramowitz, J., Birnbaumer, Lutz, Phelan, K. D., Shwe, U. T., Zheng, F.   +4 more
core   +1 more source

Hydroxycarboxylic Acid Receptor 2 Mediates β‐hydroxybutyrate's Antiseizure Effect in Mice

Annals of Neurology, EarlyView.
A Objective The ketogenic diet, a high‐fat, low‐carbohydrate regimen, is often used to treat drug‐resistant seizures and is being studied for Alzheimer's disease and other neuropsychiatric disorders. However, its mechanism of action remains unclear. β‐hydroxybutyrate, a primary circulating ketone body produced by the ketogenic diet, may mediate its ...
Soudabeh Naderi, John Williamson, Huayu Sun, Suchitra Joshi, Rachel Jane Spera, Savaira Zaib, Supriya Sharma, Chengsan Sun, Andrey Brodovskiy, Ifrah Zawar, Jaideep Kapur   +10 more
wiley   +1 more source

ΔFosB Regulates Gene Expression and Cognitive Dysfunction in a Mouse Model of Alzheimer\u27s Disease. [PDF]

, 2017
Alzheimer\u27s disease (AD) is characterized by cognitive decline and 5- to 10-fold increased seizure incidence. How seizures contribute to cognitive decline in AD or other disorders is unclear.
Aschmies, Suzan, Ashok, Annie, Chin, Jeannie, Corbett, Brian F, Fu, Chia-Hsuan, Hazra, Anupam, Iascone, Daniel M, Nestler, Eric J, Petrof, Iraklis, Pyfer, Mark S, Stephens, Gabriel S, Tosi, Umberto, You, Jason C, Zhang, Xiaohong, Zhao, Lijuan   +14 more
core   +1 more source

Refining Detection of Subclinical Epileptiform Activity in Alzheimer's Disease: A Case–Control Study and Call for a Consensus

Annals of Neurology, EarlyView.
Objective Sleep‐predominant network hyperexcitability is increasingly recognized as a potential disease‐accelerating comorbidity in Alzheimer's disease (AD). However, its prevalence and risk‐factors remain debated, largely due to cohort‐specific and methodological differences across studies.
Anna B. Szabo, Jonathan Curot, Fleur Gérard, Florence Rulquin, Rachel Debs, Claire Georges, Marie Denuelle, Amel Bouloufa, Béatrice Lemesle, Patrice Péran, Claire Thalamas, Emmanuel J. Barbeau, Jérémie Pariente, Lionel Dahan, Luc Valton   +14 more
wiley   +1 more source

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero   +6 more
wiley   +1 more source

Effects of cromakalim (BRL 34915) on potassium conductances in CA3 neurons of the guinea-pig hippocampus in vitro [PDF]

, 1989
The action of the potassium channel activator, cromakalim (BRL 34915), on membrane potential, input resistance and current-voltage-relationship of CA3 neurons in a slice preparation of the guinea-pig hippocampus was investigated by means of intracellular
Alzheimer, Christian, Sutor, Bernd, Ten Bruggencate, Gerrit   +2 more
core   +1 more source