Results 91 to 100 of about 81,293 (260)

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

Method of simultaneous determination of carbamazepine and carbamazepine-10,11-epoxide by HPLC-MS/MS

Регуляторные исследования и экспертиза лекарственных средств, 2018
Carbamazepine is the drug of first choice in the treatment of trigeminal neuralgia, epilepsy and other neurological diseases. Carbamazepine is known to have a narrow therapeutic range, and hereby the auto-induction of its metabolism with prolonged use ...
T. A. Rodina, E. S. Melnikov, A. V. Sokolov, A. B. Prokofiev, V. V. Arkhipov, G. V. Adamov, D. L. Pozdnyakov, Yu. V. Olefir   +7 more
doaj  

Health economic considerations for pharmacogenomic services in the United Kingdom: The Centre for Excellence in Regulatory Science and Innovation in Pharmacogenomics

British Journal of Clinical Pharmacology, EarlyView.
Dyfrig A. Hughes, Henry Fong, Grace Hampson, Catrin O. Plumpton, Chris Sampson   +4 more
wiley   +1 more source

Insulin‐like growth factor 1 receptor correlates with verbal memory in ILAE type 2 hippocampal sclerosis

Epilepsia, EarlyView.
Abstract Objective Long‐term memory deficits are often seen in patients with temporal lobe epilepsy (TLE). Recently, studies showed that patients with hippocampal sclerosis (HS) type 2, which presents with severe neuron loss in CA1 only, performed within the normal range. However, up to 30% of HS type 2 cases have memory deficits.
Henrique Cruz, Amauri Batista de Oliveira‐Júnior, André Fernando Garcia Cortez, Ricardo Lutzky Saute, Ricardo Silva Centeno, Joao Norberto Stávale, Mirian Salvadori Bittar Guaranha, Elza Marcia Targas Yacubian, Esper Abrão Cavalheiro, Joao Pereira Leite, Jose Eduardo Peixoto‐Santos   +10 more
wiley   +1 more source

Lamotrigine treatment of aggression in female borderline patients, Part II: an 18-month follow-up [PDF]

, 2008
Borderline patients often display pathological aggression. We previously tested lamotrigine, an anti-convulsant, in therapy for aggression in women with borderline personality disorder (BPD) (J Psychopharmacol 2005; 19: 287–291), and found significant ...
Calabrese J.R., F Pedrosa Gil, K. Tritt, MK Nickel, P. Leiberich, Schwenkmezger P., Stevens J.   +6 more
core   +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

Stiripentol: Unpublished results from the first phase 2 clinical trial in Lennox–Gastaut syndrome conducted in the early 1990s

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to present the results of an exploratory phase 2 trial of stiripentol in Lennox–Gastaut syndrome (LGS). Methods This exploratory single‐blind, single‐arm, nonrandomized sequential‐period phase 2 study was conducted at four centers in France between January 1989 and August 1993.
Stéphane Auvin, Benjamin Serraz, Jérémie Lespinasse, Laurent Chancharme   +3 more
wiley   +1 more source

Epilepsy control with carbamazepine monotherapy from a genetic perspective

BMC Pharmacology and Toxicology, 2018
Background Ethnicity variation is one of the main factors that may affect drug response in clinical practice. As MTHFR gene affects different transcriptome and proteome which affect the clinical response of drugs.
Shakir Ullah, Niaz Ali, Adnan Khan, Saad Ali, Haleema Rehna Nazish, Zia Uddin   +5 more
doaj   +1 more source

Did the French pregnancy pictogram change antiseizure medication use during pregnancy?

Epilepsia, EarlyView.
Abstract Objective The aim of this study was to assess the impact of introducing a pregnancy pictogram on medication packaging on the prescription and dispensation of antiseizure medications and on the maternal and neonatal outcomes for women exposed to these medications.
Mélanie Araujo, Christine Damase‐Michel, Marie Denuelle, Sébastien Boulogne, Laurane Delteil, Monica Saucedo, Catherine Deneux‐Tharaux, Isabelle Lacroix   +7 more
wiley   +1 more source

Simultaneous Determination of Carbamazepine and Carbamazepine-10,11-epoxide in Different Biological Matrices by LC-MS/MS

Journal of Interdisciplinary Medicine, 2017
An uncomplicated, sensitive liquid chromatography linked to mass spectrometry (LC/MS) for evaluation of carbamazepine and carbamazepine-10,11-epoxide (its metabolite) in human plasma, human saliva, rat plasma, and rabbit plasma was developed.
Andonie Dan, Gáll Zsolt, Bosa Paul, Dogaru Maria Titica, Vancea Szende   +4 more
doaj   +1 more source