Background: CRMP1 is a key protein involved in brain development.
Methods: We performed genetic testing through whole-exome sequencing (WES) in an individual with a neurodevelopmental disorder.
Results: We identified a heterozygous NM_001014809.3:c.1755del (p.Lys586fs) variant in the affected individual. This mutation was submitted to ClinVar (SCV005196589).
Conclusion: Currently, the gene has no clear disease phenotype association in the Online Mendelian Inheritance in Man (OMIM) database. Our report may provide evidence for an association between the gene and neurodevelopmental disorders (NDDs).
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11695366 | PMC |
| http://dx.doi.org/10.3389/fnins.2024.1490731 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Characterization of lamotrigine disposition changes during and after pregnancy in women with epilepsy.
Pharmacotherapy
January 2025
Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota, USA.
Background: Lamotrigine clearance can change drastically in pregnant women with epilepsy (PWWE) making it difficult to assess the need for dosing adjustments. Our objective was to characterize lamotrigine pharmacokinetics in PWWE during pregnancy and postpartum along with a control group of nonpregnant women with epilepsy (NPWWE).
Methods: The Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs (MONEAD) study was a prospective, observational, 20 site, cohort study conducted in the United States (December 2012 and February 2016).
Brain functional connectivity patterns exhibit distinctive, individualized characteristics capable of distinguishing one individual from others, like fingerprint. Accurate and reliable depiction of individualized functional connectivity patterns during infancy is crucial for advancing our understanding of individual uniqueness and variability of the intrinsic functional architecture during dynamic early brain development, as well as its role in neurodevelopmental disorders. However, the highly dynamic and rapidly developing nature of the infant brain presents significant challenges in capturing robust and stable functional fingerprint, resulting in low accuracy in individual identification over ages during infancy using functional connectivity.
View Article and Find Full Text PDFFunctional imaging derived ADHD biotypes based on deep clustering: a study on personalized medication therapy guidance.
EClinicalMedicine
November 2024
State Key Laboratory of Cognitive Neuroscience and Learning, Beijing Normal University, Beijing, 100875, China.
Background: Attention deficit hyperactivity disorder (ADHD) is one prevalent neurodevelopmental disorder with childhood onset, however, there is no clear correspondence established between clinical ADHD subtypes and primary medications. Identifying objective and reliable neuroimaging markers for categorizing ADHD biotypes may lead to more individualized, biotype-guided treatment.
Methods: Here we proposed a graph convolution network for biological subtype detection (GCN-BSD) using both functional network connectivity (FNC) and non-imaging phenotypic data for ADHD biotype.
Molecular architecture of the altered cortical complexity in autism.
Mol Autism
January 2025
Human Anatomy Department, Nanjing Medical University, No.101 Longmian Avenue, Jiangning District, Nanjing, 211166, Jiangsu, People's Republic of China.
Autism spectrum disorder (ASD) is characterized by difficulties in social interaction, communication challenges, and repetitive behaviors. Despite extensive research, the molecular mechanisms underlying these neurodevelopmental abnormalities remain elusive. We integrated microscale brain gene expression data with macroscale MRI data from 1829 participants, including individuals with ASD and typically developing controls, from the autism brain imaging data exchange I and II.
View Article and Find Full Text PDFIntraventricular Hemorrhage and Survival, Multimorbidity, and Neurodevelopment.
JAMA Netw Open
January 2025
Population Policy and Practice, Great Ormond Street UCL Institute of Child Health, London, United Kingdom.
Importance: Intraventricular hemorrhage (IVH) has proven to be a challenging and enduring complication of prematurity. However, its association with neurodevelopment across the spectrum of IVH severity, independent of prematurity, and in the context of contemporary care remains uncertain.
Objective: To evaluate national trends in IVH diagnosis and the association with survival and neurodevelopmental outcomes at 2 years of age.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!