Results 211 to 220 of about 258,626 (258)

Correction: Systemic-Pulmonary Collaterals in KCNT1-Related Disorders: Precise Nomenclature and Management. [PDF]

Pediatr Cardiol
Delaney J, Kohli U, Kawasaki Y, Burg C, Boonsimma P, Ikeda A, Paprad T, Bearden D, West J, Drislane S, Bryan B, Abuhl A.   +11 more
europepmc   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 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

Incidental recurrence of high-grade coarctation of the aorta in a child. [PDF]

J Surg Case Rep
Xie H, Yang Q, Deng M.
europepmc   +1 more source

Graded extent of hippocampal resection is related to neuropsychological outcomes in temporal lobe epilepsy surgery

Epilepsia, EarlyView.
Abstract Objective Surgical resection for epilepsy seeks to maximize seizure freedom while minimizing new neurocognitive impairments. Tailored resections guided by anatomoelectroclinical (AEC) hypotheses offer the possibility of sparing parts of the hippocampus.
Eliza M. Reedy, Emma Robinson, Thandar Aung, Catherine Liégeois‐Chauvel, Danielle R. Carns, Natalie Sherry, Luke C. Henry, Bradford Z. Mahon, Arka N. Mallela, Jorge A. Gonzalez‐Martinez   +9 more
wiley   +1 more source

Recurrent wide complex tachycardia: Where is the target for ablation? [PDF]

Indian Pacing Electrophysiol J
Kataoka S, Gerstenfeld EP.
europepmc   +1 more source

Intracranial electroencephalographic connectivity analysis to localize epileptogenic networks: Systematic review and meta‐analysis from ILAE Epilepsy Surgery Networks Task Force

Epilepsia, EarlyView.
Abstract Intracranial electroencephalographic (iEEG) connectivity analysis is a promising method to localize epileptic networks and guide surgical planning in focal drug‐resistant epilepsy. Despite numerous studies exploring its utility, the added value of iEEG connectivity over standard clinical presurgical evaluation remains unclear.
Nishant Sinha, Daniel J. Zhou, Victoria L. Morgan, Dario J. Englot, Leonardo Bonilha, Milan Brázdil, Xiaosong He, Riki Masumoto, Quy Cao, Terence J. O'Brien, Chengyuan Wu, Erik Kaestner, Carrie McDonald, Ezequiel Gleichgerrcht, Aileen McGonigal, Kathryn A. Davis   +15 more
wiley   +1 more source

The subserratus approach: Beyond the intermuscular plane. [PDF]

Heart Rhythm O2
Smietana J, Schaller RD.
europepmc   +1 more source

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

Clinical use and radiological yield of magnetic resonance fingerprinting in epilepsy

Epilepsia, EarlyView.
Abstract Objective Magnetic resonance fingerprinting (MRF) is a novel paradigm for magnetic resonance imaging (MRI) that efficiently generates multiparametric quantitative tissue property maps with a single acquisition. Its quantitative nature offers many advantages over conventional MRI.
Maksim Parfyonov, Ting‐Yu Su, Joon Yul Choi, Ingmar Blümcke, Ken Sakaie, Spencer Morris, Hiroatsu Murakami, Andreas Alexopoulos, Imad Najm, Dan Ma, Stephen E. Jones, Zhong Irene Wang   +11 more
wiley   +1 more source