Results 31 to 40 of about 10,837 (204)

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Local Field Potential‐Based Programming: A Proof‐of‐Concept Pilot Study

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objectives Programming deep brain stimulation (DBS) is still based on a trial‐and‐error approach, often becoming a time‐consuming process for both treating physicians and patients. Several strategies have been proposed to streamline DBS programming, most of which are preliminary and mainly address Parkinson's disease, a condition readily ...
Alfonso Fasano, Carolina Gorodetsky, Darcia Paul, Jürgen Germann, Aaron Loh, Han Yan, Peter L. Carlen, Sara Breitbart, Andres M. Lozano, George M. Ibrahim, Suneil K. Kalia   +10 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Structural and Functional Imaging of Motor Outcomes in Twins With Perinatal Stroke: A Case Report

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Perinatal arterial ischemic stroke (AIS) affects 1 in 4000 live births. Dystonia, affecting ~20% of children following AIS, is characterized by involuntary muscle contractions and abnormal movements. Why some develop dystonia post AIS, while others do not, remains unclear.
Prisca Hsu, Trish Domi, Cecilia Jobst, Min Sheng, Amanda Robertson, Erum Syed, Pradeep Krishnan, Douglas Cheyne, Nomazulu Dlamini   +8 more
wiley   +1 more source

Ictal semiology in lateral temporal epilepsy: A systematic review and meta‐analysis

Epileptic Disorders, EarlyView.
Abstract Objective We performed a systematic review of the ictal semiology of the lateral temporal lobe in focal epilepsy aiming to summarize the state‐of‐the‐art anatomo‐clinical correlations in the field and help guide interpretation of ictal semiology within the framework of pre‐surgical evaluation.
Jakob I. Doerrfuss, Georg Zimmermann, Martin Holtkamp   +2 more
wiley   +1 more source

Acute dystonic reaction associated with increase in trazodone dose: a case report [PDF]

Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2014
Serotonergic drugs have been used for the treatment of various psychiatric disorders such as anxiety disorders, impulse control disorders and especially depression.
hatice harmanci, serap erdogan taycan, feryal cam celikel   +2 more
doaj  

Acute dystonia in a patient with 22q11.2 deletion syndrome

Mental Illness, 2015
The 22q11.2 deletion syndrome (di George syndrome) is one of the most prevalent genetic disorders. The clinical features of the syndrome are distinct facial appearance, velopharyngeal insufficiency, conotruncal heart disease, parathyroid and immune ...
Konstantinos Kontoangelos, Antonis Maillis, Maria Maltezou, Sofia Tsiori, Charalambos C. Papageorgiou   +4 more
doaj   +1 more source

Ictal semiology in fronto‐opercular epilepsy: A systematic review

Epileptic Disorders, EarlyView.
Abstract A systematic review of the ictal semiology of fronto‐opercular seizures in focal epilepsy was carried out to assess possible anatomical‐clinical correlations and help guide interpretation of ictal semiology during pre‐surgical evaluation. PubMed and Embase databases were searched using the following keywords: “fronto‐opercular OR frontal ...
Zeynep Gokce‐Samar, Alexandra Montavont, Marion Comajuan, Julitta de Bellescize, Eleni Panagiotakaki, Marietta Papadopoulou, Matthildi‐Athina Papathanasiou‐Terzi, Joseph Toulouse, Alexis Arzimanoglou, Karine Ostrowsky‐Coste   +9 more
wiley   +1 more source