Results 21 to 30 of about 2,795 (117)

Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities

American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.
Abstract Despite advances in next generation sequencing (NGS), genetic diagnoses remain elusive for many patients with neurologic syndromes. Long‐read sequencing (LRS) and optical genome mapping (OGM) technologies improve upon existing capabilities in the detection and interpretation of structural variation in repetitive DNA, on a single haplotype ...
Kristen L. Sund, Jie Liu, Joyce Lee, John Garbe, Zakia Abdelhamed, Chelsey Maag, Barbara Hallinan, Steven W. Wu, Ethan Sperry, Archana Deshpande, Rolf Stottmann, Teresa A. Smolarek, Lisa M. Dyer, Matthew S. Hestand   +13 more
wiley   +1 more source

Gabapentin-Induced Choreoathetosis

Pediatric Neurology Briefs, 1997
Two institutionalized, severely retarded adults, aged 42 and 41, with intractable epilepsy, developed choreoathetosis within 14 days when gabapentin in dosages of 1200 to 1800 mg/d were added as adjunctive therapy to valproic acid or phenytoin, in a report from University of Texas Southwestern Medical Center, Dallas, and Denton State School, Texas ...
openaire   +3 more sources

Child‐led goal setting and evaluation tools for children with a disability: A scoping review

Developmental Medicine &Child Neurology, Volume 66, Issue 12, Page 1558-1569, December 2024.
This scoping review examined child‐led tools and approaches used for goal setting and evaluation. Four tools and three approaches were found which can support children with disabilities and delays to be actively involved in goal setting for intervention. Tools and approaches were utilised across six overarching goal phases.
Aisling K. Ryan, Laura Miller, Tanya A. Rose, Leanne M. Johnston   +3 more
wiley   +1 more source

Expanding the genetic and clinical spectrum of SLC25A42‐associated disorders and testing of pantothenic acid to improve CoA level in vitro

JIMD Reports, Volume 65, Issue 6, Page 417-425, November 2024.
Abstract SLC25A42 encodes the mitochondrial coenzyme A (CoA) transporter localized at the inner mitochondrial membrane. SLC25A42 deficiency leads to a congenital disease with a heterogeneous clinical presentation, including myopathy, developmental delay, lactic acidosis, and encephalopathy. Twenty‐one patients have been described so far. In the current
Katharina Heckmann, Arcangela Iuso, Janine Reunert, Marianne Grüneberg, Anja Seelhöfer, Stephan Rust, Giuseppe Fiermonte, Eleonora Paradies, Carmela Piazzolla, Manoj Mannil, Thorsten Marquardt   +10 more
wiley   +1 more source

Tractography of sensorimotor pathways in dyskinetic cerebral palsy: Association with motor function

Annals of Clinical and Translational Neurology, Volume 11, Issue 10, Page 2609-2622, October 2024.
Abstract Objectives Neuroimaging studies of dyskinetic cerebral palsy (CP) are scarce and the neuropathological underpinnings are not fully understood. We delineated the corticospinal tract (CST) and cortico‐striatal‐thalamocortical (CSTC) pathways with probabilistic tractography to assess their (1) integrity and (2) association with motor functioning ...
Xavier Caldú, Lee B. Reid, Kerstin Pannek, Jurgen Fripp, Júlia Ballester‐Plané, David Leiva, Roslyn N. Boyd, Roser Pueyo, Olga Laporta‐Hoyos   +8 more
wiley   +1 more source

Paroxysmal Dystonic Choreoathetosis

Pediatric Neurology Briefs, 2000
The clinical characteristics of paroxysmal dystonic choreoathetosis (PDC) in 20 affected members of a large British family are reported from the Institute of Neurology, Queen Square, and the MR Unit, Hammersmith Hospital, London, UK.
openaire   +4 more sources

Focal paroxysmal kinesigenic choreoathetosis [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1983
Three cases of paroxysmal kinesigenic choreoathetosis are described in whom unilateral attacks were focally induced, together with a case in whom bilateral attacks only occured. Treatment with phenytoin was effective in all cases. The aspects of the literature relating to focal and generalised attacks in paroxysmal kinesigenic choreoathetosis are ...
openaire   +3 more sources

Paroxysmal kinesigenic choreoathetosis in hyperthyroidism [PDF]

Postgraduate Medical Journal, 1987
Summary Paroxysmal kinesigenic choreoathetosis is an unusual movement disorder often triggered by attempts to use the limbs, and has sometimes been associated with diffuse or focal brain injury. We report its occurrence in hyperthyroidism, with which choreoathetosis has rarely been described in the past without known cause ...
openaire   +3 more sources

Proceedings 35th Symposium ESVN‐ECVN

Journal of Veterinary Internal Medicine, Volume 39, Issue 2, March/April 2025.
wiley   +1 more source

Choreoathetosis as a rare complication of paraneoplastic syndrome: a case report in small cell lung cancer with positive anti-Hu antibodies. [PDF]

Proc (Bayl Univ Med Cent)
Saowapa S, Adu Y, Parmar K, Agusala V, Srifuengfung G, Polpichai N, Siladech P, Tanariyakul M.   +7 more
europepmc   +1 more source