Results 1 to 10 of about 2,795 (117)

Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability. [PDF]

Clin Case Rep
ABSTRACT Copy number variations (CNVs) contribute to various disorders including intellectual disability, developmental disorders, and cancer. This study identifies a de novo 2.62 Mb deletion at 6q22.1_q22.31, implicating the NUS1 gene in epilepsy, spinal abnormalities, and intellectual disability, thereby expanding its known phenotypic associations.
Hsu JY, Ibrahim DH, Ali R, Marchi E, Gavin M, Amble K, Lyon GJ.   +6 more
europepmc   +2 more sources

An Uncommon Cause of Choreoathetosis

JACEP Open, 2023
Choreoathetosis is an uncommon presentation in the emergency department setting. The differential diagnosis is broad and includes life‐threatening as well as benign causes. Lethal etiologies include metabolic derangements such as hyponatremia as in the case presented here.
Emma Steffer, Nathan Sandalow
openaire   +2 more sources

Choreoathetosis with Gabapentin

Pediatric Neurology Briefs, 1996
A 37-year-old man with severe mental retardation since birth and intractable epilepsy treated with AED polytherapy developed choreoathetosis and orofacial dyskinesia within 5 days of introducing gabapentin (GBP) at the Department of Neurology, West Virginia University, Morgantown, WV.
openaire   +4 more sources

Treatment Efficacy of Theophylline in ADCY5‐Related Dyskinesia: A Retrospective Case Series Study

Movement Disorders, EarlyView.
Abstract Background ADCY5‐related dyskinesia is a rare disorder caused by mutations in the ADCY5 gene resulting in abnormal involuntary movements. Currently, there are no standardized guidelines to treat this condition. Objective The aim of this study was to evaluate the efficacy of theophylline administration in improving symptoms and quality of life ...
Dirk Taenzler, Frank Hause, Andreas Merkenschlager, Andrea Sinz   +3 more
wiley   +1 more source

Tri‐M2MT: Multi‐modalities based effective acute bilirubin encephalopathy diagnosis through multi‐transformer using neonatal Magnetic Resonance Imaging

CAAI Transactions on Intelligence Technology, Volume 10, Issue 2, Page 434-449, April 2025.
Abstract Acute Bilirubin Encephalopathy (ABE) is a significant threat to neonates and it leads to disability and high mortality rates. Detecting and treating ABE promptly is important to prevent further complications and long‐term issues. Recent studies have explored ABE diagnosis.
Kumar Perumal, Rakesh Kumar Mahendran, Arfat Ahmad Khan, Seifedine Kadry   +3 more
wiley   +1 more source

The Cognitive Orientation to daily Occupational Performance approach in childhood‐onset disabilities

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16314 Abstract The Cognitive Orientation to daily Occupational Performance (CO‐OP) approach, a goal‐oriented intervention focused on participation, is designed to improve performance by addressing personal goals important to children and their families.
Hortensia Gimeno, Helene Polatajko
wiley   +1 more source

Scrub typhus‐associated movement and gait disorders: A systematic review with principal component analysis and in silico mechanistic modelling

Tropical Medicine &International Health, Volume 30, Issue 6, Page 459-480, June 2025.
Abstract Background Orientia tsutsugamushi, the causative agent of scrub typhus, is increasingly recognised for its neurological complications. Among these, movement and gait disorders are poorly understood. We systematically examined their clinical spectrum and explored underlying mechanisms through in‐silico protein–protein interaction modelling ...
Ritwick Mondal, Shramana Deb, Mrinmay Dhauria, Purbita Sen, Vramanti Sarkar, Shramana Sarkar, Dipanjan Chowdhury, Durjoy Lahiri, Jayanta Roy, Julián Benito‐León   +9 more
wiley   +1 more source

Choreoathetosis secondary to lead toxicity [PDF]

Arquivos de Neuro-Psiquiatria, 2008
Firearm projectiles have been described, albeit rarely, as a cause of lead toxicity. The usual route of lead exposure is oral ingestion, but toxicity secondary to retained bullet fragments has been well documented1. Switz et al. described the first case in 1976 – a bullet was lodged in a patient’s left ankle and gastrointestinal symptoms emerged forty ...
Leandro Tavares Lucato, Mariana Spitz, Egberto Reis Barbosa, Mônica Santoro Haddad   +3 more
openaire   +3 more sources

Purine Metabolism and Dystonia: Perspectives of a Long‐Promised Relationship

Annals of Neurology, Volume 97, Issue 5, Page 809-825, May 2025.
Purine pool imbalance in purine metabolism disorders, such as Lesch–Nyhan disease, intersects with dystonia pathogenesis. The recent discovery of gain‐of‐function IMPDH2 pathogenic variants in patients with prominent dystonic manifestations provides new insights into the link between dystonia and purinergic system defects.
Ugo Sorrentino, Audrey G. O'Neill, Justin M. Kollman, Hyder A. Jinnah, Michael Zech   +4 more
wiley   +1 more source

Paroxysmal kinesigenic choreoathetosis

Yonsei Medical Journal, 1996
Paroxysmal kinesigenic choreoathetosis (PKC) is characterized by short paroxysms of focal or generalized involuntary movement induced by sudden movements, and is a well-known disease in the neurologic literature, but only 4 cases have been reported in Korea. The purpose of the presentation is to clarify the clinical features of PKC in Korea.
Won Young Jung, Jin Ho Kim, Il Saing Choi   +2 more
openaire   +3 more sources