Results 241 to 250 of about 71,305 (341)

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

Clinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source

"Comment on: Does Prior Bariatric Surgery Predispose to Acetaminophen-Related Acute Liver Failure?" [PDF]

Clin Transl Gastroenterol
Yağli MA, Çifcibaşı Örmeci A, Kaymakoğlu S.   +2 more
europepmc   +1 more source

A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic

Clinical Genetics, EarlyView.
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman, Sara Via Dorembus, Omer Shlomovitz, Shoshana Greenberger, Einat Lahav, Sharon Mini‐Goldberger, Michal Tzadok   +6 more
wiley   +1 more source

Depth of Anaesthesia Measured by Patient State Index (PSi) Does Not Correlate With Increased Seizure Duration During Electroconvulsive Therapy. [PDF]

Acta Anaesthesiol Scand
Jildenstål P, Nordenskjöld A, Edström M, Otterbeck A.   +3 more
europepmc   +1 more source

Synthesis and anticonvulsant activity of trans- and cis-2-(2,6-dimethylphenoxy)-N-(2- or 4-hydroxycyclohexyl)acetamides and their amine analogs

, 2011
Elżbieta Pękala, Anna M. Waszkielewicz, Edward Szneler, Maria Walczak, Henryk Marona   +4 more
openalex   +2 more sources

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

Surgical Management of Severe Drug-Induced Gingival Hypertrophy: A Case Report. [PDF]

Clin Case Rep
Alfarone JJ, Hatala A, Patel D, Tatum S.
europepmc   +1 more source

Personalized care of paediatric drug‐resistant epilepsy in Africa: A single‐centre pilot study utilizing mobile health and genetic testing

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70075 Abstract Aim To evaluate personalized care or precision medicine initiatives, including mobile health (mHealth) technology and genetic screening, in a South African paediatric epilepsy clinic. Method This exploratory prospective observational pilot study included 39 children
Ian S. Olivier, Karen Fieggen, Sandra Komarzynski, Elin H. Davies, Irene Muchada, Caitlin McIntosh, Alina Esterhuizen, Richard J. Burman, Jo M. Wilmshurst, And the University of Cape Town (UCT) Human Genetics Precision Medicine Epilepsy Group, Nicholas Loxton, Shrinav R Dawlatt, Akshay Vanmali   +12 more
wiley   +1 more source

Red‐light flashing pens and seizures in children

Developmental Medicine &Child Neurology, EarlyView.
Guidelines exist to limit seizure‐provoking visual stimuli. However, existing recommendations are not universally applied, and poorly regulated flickering lights are easily encountered in consumer products. Two girls experienced prolonged absence seizures triggered by a red‐light flickering pen.
Simone Gasparini, Alice Dainelli, Francesca Piras, Simona Balestrini, Renzo Guerrini   +4 more
wiley   +1 more source