Results 131 to 140 of about 77,935 (264)

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

Deep learning-based automated detection of fetal corpus callosum abnormalities in prenatal ultrasound. [PDF]

Front Pediatr
Li M, Liu S, Zhang Z, Li Q, Xu X.
europepmc   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Glial interactions in the formation and plasticity of the corpus callosum. [PDF]

Front Cell Neurosci
Czyrska J, Ziętek MM, Bernat A, Sampino S.   +3 more
europepmc   +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

Isolated Agenesis of the Splenium of the Corpus Callosum Associated With Autism Spectrum Disorder: A Rare and Clinically Relevant Association. [PDF]

Cureus
Ibanez Escalante CR, Goker HD, Bernad PG.   +2 more
europepmc   +1 more source

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

Age-Dependent Corpus Callosum Thickness Abnormalities and Clinical Implications in Treatment-Naïve First-Episode Schizophrenia. [PDF]

Alpha Psychiatry
Lin J, Deng L, Li M, Wang Q, Zhao L, Yu H, Li X, Deng W, Guo W, Li T, Ni P, Wei W.   +11 more
europepmc   +1 more source

Evaluating the Influence of Injury‐Induced Microstructural Variations on the Efficacy of a Diffusion MRI‐Derived Axon Diameter Surrogate

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To investigate the utility of a recently demonstrated diffusion MRI derived axon diameter surrogate measure (∆D⟂) under pathologic conditions induced by a spinal cord injury model. Methods Contusion injuries were performed on the thoracic–lumbar spinal cord of adult male rats.
Hannah E. Alderson, Chaoqi Mu, Li Min Chen, Mark D. Does, Kevin D. Harkins   +4 more
wiley   +1 more source

When Fat Meets the Brain: Corpus Callosum Lipoma in a Neonate. [PDF]

Sage Open Pediatr
Rania B, Lina B, Ouiam T, El Haddad S, Allali N, Chat L.   +5 more
europepmc   +1 more source