Results 211 to 220 of about 1,509,615 (258)

GRIA2 Variant Associated With Paradoxical Response to Perampanel Expanding the Spectrum of GRIA2‐Related Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction GRIA2 encodes the GluA2 ionotropic α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid (AMPA) receptor subunit. Pathogenic GRIA2 variants cause epilepsy, developmental delay, and neurobehavioral disorders. Characterizations of clinical features, including seizure types and their treatments, in patients with GRIA2‐related ...
Sai Srihitha Dommata, Chhitij Tiwari, Zheng Fan, Muge Gucsavas‐Calikoglu, Yael Shiloh‐Malawsky, Kimberly S. Foss, Stephanie N. Peck, Erin L. Heinzen, Chon Lee, Senyene E. Hunter   +9 more
wiley   +1 more source

Craniofacial features and pathogenic variants in 1,252 children with neurodevelopmental disorders. [PDF]

BMC Pediatr
Chen R, Wu D, Zhang J, Dai Y, Xia D, Chen M, Li X, Liu Q, Chen Y, Li R.   +9 more
europepmc   +1 more source

Motor Physiology Transcranial Magnetic Stimulation–Based Biomarkers and Associated Neurocognitive Profiles in Attention‐Deficit/Hyperactivity Disorder

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Purpose Attention‐deficit/hyperactivity disorder (ADHD) is a highly prevalent and heterogeneous neurodevelopmental condition for which current diagnostic approaches rely on symptom‐based classifications that do not capture underlying neurobiology.
Alyssa C. DeRonda, Alice Sperry, Deana Crocetti, Karlee Migneault, Paul S. Horn, Donald L. Gilbert, Keri S. Rosch, Stewart H. Mostofsky   +7 more
wiley   +1 more source

Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders. [PDF]

Front Mol Biosci
Anisimova P, Filat'eva A, Tarabykin V, Kondakova E.   +3 more
europepmc   +1 more source

Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed, Supreet S. Randhawa, Jason H. Peragallo, Prabhumallikarjun Patil, Grace Gombolay, Varun Kannan   +5 more
wiley   +1 more source

AI-Assisted WES Variant Interpretation in Neurodevelopmental Disorders: A Narrative Review of Existing Tools. [PDF]

Genes (Basel)
Treccarichi S, Vinci M, Musumeci A, Galati Rando R, Fallea A, Brancato D, Bruno F, Federico C, Saccone S, Elia M, Cali F.   +10 more
europepmc   +1 more source

Rethinking Delivery Timing in Prenatally Diagnosed Spinal Muscular Atrophy: A Case Report With 2‐Year Follow‐Up

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective We describe the clinical course and outcome of a prenatally diagnosed infant with spinal muscular atrophy (SMA) treated immediately after early‐term birth and highlight considerations regarding delivery timing and neonatal management. Methods This male infant had a family history of SMA type 1A.
Emilie Groulx‐Boivin, Olivier Fortin, Simon Thebault, Unain Ansari, Victoria Nixon, Ariane Belzile, Richard Brown, Jarred Garfinkle, Maryam Oskoui   +8 more
wiley   +1 more source