Results 101 to 110 of about 8,128 (220)

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

Oro-facial Dystonia Following Dental Extraction: Is It Organic or Psychogenic?

Abant Medical Journal, 2019
Distoni, sürekli veya aralıklı kas kasılmalarının yol açtığı bükülme benzeri, tekrarlayan hareketler veya postürel anormallikler ile karakterize bir hareket hastalığıdır.Burada 46 yaşında, dental bir prosedürü takiben meydana gelen, tek taraflı, şiddetli, süreklilik gösteren ve üst dudak deviyasyonuna neden olan kas kasılmalarından yakınan kadın hasta ...
ÇOBAN, Kübra, ÇAĞLAR, Barış, BÜYÜKLÜ, Fuat   +2 more
openaire   +2 more sources

Consensus‐based follow‐up and treatment registry for GNAO1‐associated disorder

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To establish consensus‐based recommendations on relevant domains of functioning and assessment instruments for an GNAO1‐associated disorder follow‐up and treatment registry. Method This was a mixed‐methods study consisting of a systematic literature search, a survey, and a real‐time Delphi procedure to achieve consensus on domains and ...
Larissa R. Heideman, Nicole I. Wolf, Moritz Thiel, Jolanda H. Schieving, Chris De Kruiff, Suzanne van den Bos, Eva Van Heeringen‐Broekhuizen, J. Jasper Deuring, Annemieke I. Buizer, Laura A. Van De Pol   +9 more
wiley   +1 more source

Decreased [¹⁸F]Spiperone Binding in Putamen in Idiopathic Focal Dystonia

, 1997
In this study we have investigated the pathophysiology of two idiopathic focal dystonias: hand cramp with excessive cocontractions of agonist and antagonist hand or forearm muscles during specific tasks, such as writing, and facial dystonia manifested by
Mikula K. Stambuk, Joel S. Perlmutter, Joanne Markham, Lori McGee-Minnich, Stephen M. Moerlein, Joseph Jankovic, Kevin J. Black   +6 more
core   +1 more source

Semiological features of epilepsy seizures and paroxysmal non‐epileptic events in children: A systematic review and meta‐analysis

Developmental Medicine &Child Neurology, EarlyView.
Pediatric paroxysmal non‐epileptic events (PNEs) are frequently misdiagnosed as epilepsy. We systematically reviewed and synthesized 40 studies, including 3123 video‐EEG monitored pediatric patients. Epileptic seizures in infants (1 month–3 years) typically presented as arrest, while in children and adolescents (1 month–21 years) they manifested as ...
Tímea Lőrincz‐Molnár, Márk Viktor Hernádfői, Krisztina Szalkay, Réka Tóth, Marie Anne Engh, Péter Kiss, Miklós Garami, Péter Hegyi, András Fogarasi   +8 more
wiley   +1 more source

Gastroenterological Society of Australia Position Statement on the Assessment and Management of Idiopathic Gastroparesis

Journal of Gastroenterology and Hepatology, EarlyView.
The first Australian guidance document on the assessment and management of idiopathic gastroparesis (IGP) reconceptualises IGP as a sensorimotor disorder. It proposes a novel multidisciplinary treatment algorithm and 20 high‐consensus recommendations, addressing common overlapping disorders, and providing clear guidance on associated disordered eating ...
Trina Kellar, Chamara Basnayake, Jessica Biesiekierski, Rebecca Burgell, Jessica Fitzpatrick, Geoffrey Hebbard, Vincent Ho, Hannah Kim, Simon R. Knowles, Christopher K. Rayner, May Wong, Nicholas J. Talley   +11 more
wiley   +1 more source

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

, 2009
Udgivelsesdato: 2009-MayBACKGROUND: DYT6 is a primary, early-onset torsion dystonia; however, unlike in DYT1 dystonia, the symptoms of DYT6 dystonia frequently involve the craniocervical region.
Lohmann, Katja, Djarmati, Ana, Schneider, Susanne A, Fuchs, Tania, Münchau, Alexander, Rakovic, Aleksandar, Kostic, Vladimir S, Pawlack, Heike, Hagenah, Johann, Jabusch, Hans-Christian, Wilcox, Robert, Brüggemann, Norbert, Klein, Christine, Altenmüller, Eckart, Winkler, Susen, Schmidt, Alexander, Siebner, Hartwig, Ozelius, Laurie J, Zittel, Simone   +18 more
core   +1 more source

Chemodenervation for the Treatment of Facial Dystonia [PDF]

Ophthalmology, 2018
Jurij R. Bilyk, Michael T. Yen, Elizabeth A. Bradley, Edward J. Wladis, Louise A. Mawn   +4 more
openaire   +1 more source

Collaborative Genomics for Dystonia in Central and Eastern Europe: Successes Achieved, New Frontiers Ahead

Movement Disorders, EarlyView.
Robert Jech, Petra Havránková, Eugenia Tsoma, Lukáš Kunc, Tomáš Krajča, Ján Necpál, Olga Ulmanová, Aleksandra Tomic, Ivana Dzinovic, Irena Rektorová, Marek Baláž, Tereza Serranová, Stanislava Jaselska, Maria Giertlova, Kristina Kulcsarova, Alexandra Lackova, Denisa Harvanova, Miriam Ostrozovicova, Vladimir Han, GenDy Collaborators, Matej Škorvánek, Michael Zech   +21 more
wiley   +1 more source