Results 91 to 100 of about 125,979 (217)

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Diagnostic Lag in Precision Medicine

Clinical Pharmacology &Therapeutics, EarlyView.
Petr Heneberg
wiley   +1 more source

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

Episodic Memory and Episodic Future Thinking Impairments in High-Functioning Autism Spectrum Disorder: An Underlying Difficulty With Scene Construction or Self-Projection? [PDF]

, 2013
Objective: There appears to be a common network of brain regions that underlie the ability to recall past personal experiences (episodic memory) and the ability to imagine possible future personal experiences (episodic future thinking).
Lind, Sophie E., Lind, S. E., Peel, Anna, Lind, S, City University London, Williams, David M., Williams, D.M., Bowler, D.M., Lind, S.E., Bowler, D. M., Bowler, Dermot M., Williams, D. M., Peel, A.   +11 more
core   +1 more source

Spinocerebellar Ataxia Type 27B (SCA27B): A Hereditary Ataxia in Portugal

Acta Médica Portuguesa
Spinocerebellar ataxia type 27B (SCA27B) is a recently discovered hereditary disease caused by (GAA)≥250 repeat expansion in the fibroblast growth factor 14 (FGF14) gene, and multiple studies have recognized it as one of the most common causes of ...
Vítor Mendes Ferreira, Marta Magriço, Bruna Meira, Raquel Barbosa   +3 more
doaj   +1 more source

Breathe, Eat, Talk: Three Essential Ingredients to Quality‐of‐Life Outcomes in Movement Disorders

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Breathing, eating, and talking (BET) impairments are common yet frequently underrecognized features of movement disorders. Deficits in respiration, swallowing, voice, and speech may emerge early in the course of a disease, adversely affecting safety, participation, and quality of life.
John Dean, Lena C. O’Flynn, Michelle Ciucci, Cynthia Fox, Jessica E. Huber, Supraja Anand, Maira Rozenfeld Olchik, Jibrin S. Usman, Adam P. Vogel, Bettina Aguiar, Diana Khasanova, Dharshini Manoharan, Lorraine Ramig, Angela Roberts, Federico Rodriguez‐Porcel, Kristina Simonyan, Julie M. Barkmeier‐Kraemer   +16 more
wiley   +1 more source

Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2

Biomedical Papers, 2017
Introduction: Episodic ataxias (EAs) are rare dominantly inherited neurological disorders characterized by recurrent episodes of ataxia lasting minutes to hours.
Andrea Petrovicova, Miroslav Brozman, Egon Kurca, Tibor Gobo, Jana Dluha, Klaudia Kalmarova, Vladimir Nosal, Martina Hikkelova, Adriana Krajciova, Tatiana Burjanivova, Stefan Sivak   +10 more
doaj   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders [PDF]

, 2003
Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium channel type P/Q.
Veneziano, L, Iodice, C, Frontali, M, Mantuano, E, Frontali, M., IODICE, CARLA   +5 more
core   +1 more source

Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I

Frontiers in Neurology, 2018
Episodic ataxia type 1 (EA1), a Shaker-like K+channelopathy, is a consequence of genetic anomalies in the KCNA1 gene that lead to dysfunctions in the voltage-gated K+ channel Kv1. 1.
Zeynep S. Karalok, Alfredo Megaro, Marta Cenciarini, Alev Guven, Sonia M. Hasan, Birce D. Taskin, Paola Imbrici, Serdar Ceylaner, Mauro Pessia, Mauro Pessia, Maria C. D'Adamo   +10 more
doaj   +1 more source