Results 51 to 60 of about 165,991,670 (135)

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Clinical features of nine patients with alternating hemiplegia of childhood

, 2011
Aim: To define clinical features of patients with alternating hemiplegia of ...
Burak Tatlı, Nur Aydınlı, Cengiz Dilber, Caliskan, Mine, Dilber, Cengiz, Barış Ekici, Ekici, Baris, Tatli, Burak, Aydinli, Nur, Ozmen, Meral, Mine Çalışkan, Yasemin Küçükuğurluoğlu, Ahmet Yaramış, Kucukugurluoglu, Yasemin, Bülent Kara, Yaramis, Ahmet, Kutluhan Yılmaz, Yilmaz, Kutluhan, Kara, Bulent, Meral Özmen   +19 more
core   +1 more source

Alternating Hemiplegia of Childhood: Understanding the Genotype–Phenotype Relationship of ATP1A3 Variations

The Application of Clinical Genetics, 2020
Alessandro Capuano,1 Giacomo Garone,1,2 Giuseppe Tiralongo,1 Federica Graziola1 1Movement Disorders Clinic, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children’s Hospital, Rome, Italy; 2University Hospital ...
Capuano A, Garone G, Tiralongo G, Graziola F   +3 more
doaj  

Nursing care for patients with rare diseases on the example of patients with Alternating Hemiplegia of Childhood

Health Promotion & Physical Activity, 2018
Introduction: Rare diseases are those which occur in 1 person in 2000. Usually they are genetically conditioned. They also comprise diseases which appear as a result of metabolic, immunological defects, infections and uncommon cancers.
Małgorzata Pazdur
doaj   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Orofacial Myofunctional Therapy for Feeding and Swallowing in Children From Four to 12 Years: What Does the Evidence Show? A Systematic Review

Journal of Oral Rehabilitation, EarlyView.
This systematic review evaluated the effectiveness of orofacial myofunctional therapy (OMT) for improving feeding and swallowing outcomes in children aged 4–12 years. Searches of four databases identified 17 studies, all reporting positive feeding and/or swallowing outcomes, including improved eating and swallowing skills, orofacial muscle function and
Danielle Carey, Robyn Merkel‐Walsh, Phoebe Burrage, Melissa Hadlow, Ghidaa Hasan A. Alrehaily, Raymond J. Tseng, Sharon Smart   +6 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1759-1771, September 2026.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Gait Alterations Due to DCC Gene Variants in Individuals with Congenital Mirror Movements

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2154-2165, September 2026.
Abstract Background Congenital Mirror Movement Syndrome (CMMS) involves involuntary movements on one side of the body while voluntary movements are performed on the other side. They disrupt left–right coordination and can be caused by a pathogenic variant in the DCC gene.
Nok‐Yeung Law, Shanie Desrosiers, Sinthiya Sivanesan, Helga Tonkov, Frédéric Charron, Frédéric Bretzner, Myriam Srour, Dorothy Barthélemy   +7 more
wiley   +1 more source

Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population

Molecular Genetics & Genomic Medicine, 2023
Background Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree.
Cara P. Ford, Rebecca O. Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves, Liesbeth Vossaert, Nichole Owen, Michael Wangler, Carrie A. Schmid, The Texome Project   +9 more
doaj   +1 more source

ATP1A3‐Encoded Sodium‐Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Background Pathogenic variation in the ATP1A3‐encoded sodium‐potassium ATPase, ATP1A3, is responsible for alternating hemiplegia of childhood (AHC).
Mary E. Moya‐Mendez, Chiagoziem Ogbonna, Jordan E. Ezekian, Michael B. Rosamilia, Lyndsey Prange, Caridad de la Uz, Jeffrey J. Kim, Taylor Howard, John Garcia, Robert Nussbaum, Rebecca Truty, Thomas E. Callis, Emily Funk, Matthew Heyes, Guy de Lisle Dear, Michael P. Carboni, Salim F. Idriss, Mohamad A. Mikati, Andrew P. Landstrom   +18 more
doaj   +1 more source