Results 151 to 160 of about 585,882 (283)

Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar

Clinical Genetics, EarlyView.
Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun, Susan F. Rogers, Doaa M. Taha, Meena Balasubramanian   +3 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Neurodevelopmental and neurological features in children with hypochondroplasia

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter, Rhoda Akilapa, Alessandra Cocca, Melita D. Irving   +3 more
wiley   +1 more source

Drug‐Refractory Dystonia: Benefits of Lamotrigine Therapy in a Case of SCN2A Epilepsy‐Dyskinesia Syndrome

Movement Disorders Clinical Practice, EarlyView.
Isobel S. Platt, Patrick B. Moloney, Sanjay M. Sisodiya, Thomas T. Warner   +3 more
wiley   +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

Early tocilizumab and outcomes in acute necrotizing encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Early tocilizumab and outcome in acute necrotising encephalopathy. Aim To evaluate the timing and safety of tocilizumab in acute necrotizing encephalopathy (ANE). Method This was a multicentre retrospective study evaluating outcomes (modified Rankin Scale [mRS]) in children with ANE treated with tocilizumab. A logistic regression model determined a cut‐
Velda X Han, Prithuja Poudyal, Vanessa Lee, Arushi Gahlot Saini, Shekeeb S Mohammad, Sekhar C Pillai, Gouri Rao Passi, Naveen Sankhyan, Ahmad Rithauddin Mohamed, Lokesh Lingappa, Hiroshi Sakuma, Russell C Dale, Ming Lim, Terrence Thomas, for The International ANE Study Group   +14 more
wiley   +1 more source

Foraminal subependymal nodules and subependymal giant cell astrocytoma in children with tuberous sclerosis

Developmental Medicine &Child Neurology, EarlyView.
We studied 128 TSC referred to our tertiary centre between 2012 and 2024, with at least one brain imaging before 18 years, before neurosurgical or mTOR inhibitor treatment, and at least one fSEN. Median age at first and last imaging was 3 years 2 months and 12 years. Longitudinal fSEN evolution with age identified three growth patterns: non‐growing (71%
Sofia Ferri, Sara Cabet, Nicole Chemaly, Jacques Laschet, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout   +6 more
wiley   +1 more source

RCC1 neuropathy mimics childhood axonal Guillain–Barré syndrome with variable clinical severity and survival

Developmental Medicine &Child Neurology, EarlyView.
We present 10 patients who presented with acute onset axonal neuropathy following infection, mimicking childhood axonal Guillain–Barré syndrome. We review phenotypes, undertake survival analysis, and assess function of novel RCC1 variants in vitro. Abstract Aim To assess the phenotype and genotype of 10 new patients with biallelic RCC1 variants who ...
Han Zhang, Beril Din, John H. McDermott, RCC1 Neuropathy Study Group, Adam Jackson, Halil Tuna Akar, Ali Dursun, Riza Koksal‐Ozgul, Reza Sadjadi, Lauren Politica, Stephan Zuchner, Reza Maroofian, Usman Ali, Dudu Turkyilmaz, Jawadur Rahman, Hasan Bas, Khalid Hussain, Khalid A Fakhro, Aljazi Al‐Maraghi, Annemarie CS Knijnenburg, Monique Engel, Debby Hellebrekers, Heike Losch, Sietse M Aukema, Marlene Kullik, Christoph Geier, Raymond T. O'Keefe, William G. Newman, J. Robert Harkness   +28 more
wiley   +1 more source

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort. [PDF]

Hum Genet
Szalai R, Till A, Galimurka K, Banfai Z, Zsigmond A, Hadzsiev K.   +5 more
europepmc   +1 more source

A spatiotemporal analysis of Salmonella bacteraemia in Queensland, 2010–2019

Internal Medicine Journal, EarlyView.
Abstract Background Salmonellosis contributes to a significant burden on global healthcare systems. The impact of this foodborne bacterium is more pronounced when the infection is invasive, leading to bacteraemia and sepsis. Studies on invasive salmonellosis are few, and there is an urgent need to understand the spatial distribution of bacteraemia and ...
Naveen Manchal, Megan K Young, Maria Eugenia Castellanos, Oyelola A. Adegboye   +3 more
wiley   +1 more source