Results 151 to 160 of about 39,746 (275)

Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends

Orphanet Journal of Rare Diseases
Background KAT6A (Arboleda-Tham) syndrome is a Mendelian disorder of the epigenetic machinery caused by pathogenic variants in the lysine acetyltransferase 6 A (KAT6A) gene.
Rowena Ng, Allison J Kalinousky, Jacqueline Harris   +2 more
doaj   +1 more source

Dietetic‐Led Cognitive‐Behavioral Therapy for Avoidant/Restrictive Food Intake Disorder: Feasibility, Acceptability, and Proof‐of‐Concept

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Cognitive‐Behavioral Therapy for Avoidant/Restrictive Food Intake Disorder (CBT‐AR) is an emerging treatment for ARFID, but to date, it has only been delivered by mental health clinicians. Given the relevance of nutrition to treatment goals, we adapted the treatment to be dietetic‐led (D‐CBT‐AR).
Copeland G. Winten, Esben Strodl, Gabriella Heruc, Joanne Avery, Kamryn T. Eddy, Lynda J. Ross, Jennifer J. Thomas   +6 more
wiley   +1 more source

Capillary Electrophoresis With Amperometric Detection for Neurotransmitter Analysis: Principles, Electrode Materials, Methodologies, and Applications

ELECTROPHORESIS, EarlyView.
This review provides a comprehensive summary of monoamine neurotransmitter analysis by capillary electrophoresis with amperometric detection. Fundamental principles of amperometric detection, electrode positioning strategies, and approaches to high‐voltage decoupling are described, followed by a critical comparison of electrode materials, selection of ...
Petr Kubáň, Jiří Volánek, Nguyen Thi Thu Trang, Tran Dai Lam   +3 more
wiley   +1 more source

Bidirectional sleep‐seizure interactions and orexin in a mouse model of tuberous sclerosis complex‐related epilepsy

Epilepsia, EarlyView.
Abstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Nicholas R. Rensing, Lirong Han, Dongjun Guo, Thomas J. Foutz, Michael Wong   +4 more
wiley   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities [PDF]

, 2018
Araujo, Gabriel C, Brereton, Emily, Dodd, Jonathan, Fassi, Emily, Pathak, Sheel J, Shinawi, Marwan, Telegrafi, Aida   +6 more
core   +2 more sources

Long‐lasting remodeling of astrocytes in an Scna1+/− mouse model of Dravet syndrome

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a prototypical developmental and epileptic encephalopathy caused by mutations in the SCN1A gene, leading to loss of function of the voltage‐gated sodium channel Naᵥ1.1. The latter causes early onset drug‐resistant seizures and enduring cognitive and behavioral deficits.
Athénaïs Genin, Alicia Janvier, Tristan Moujellil‐Legagneur, Marine Blaquière, Alexis Chaussy, Romane Privé, Fabrice Duprat, Massimo Mantegazza, Etienne Audinat, Nicola Marchi, Noémie Cresto   +10 more
wiley   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

Epilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara, Erwin A. van Vliet, Alessia Romagnolo, Kevin Staley, Kyle P. Lillis, Chris Dulla, David C. Henshall, Katja Kobow   +7 more
wiley   +1 more source

Social (Pragmatic) Communication Disorder: Another name for the Broad Autism Phenotype? [PDF]

Autism, 2019
Flax J, Gwin C, Wilson S, Fradkin Y, Buyske S, Brzustowicz L.   +5 more
europepmc   +1 more source