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Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing.
Neurol Genet
February 2025
Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Canada.
Background And Objectives: Neonatal encephalopathy (NE) is characterized by an abnormal level of consciousness with or without seizures in the neonatal period. It affects 1-6/1,000 live term newborns. We applied genome sequencing (GS) in term newborns with NE to investigate the underlying genetic causes.
View Article and Find Full Text PDFThe Feasibility of Personalized Endpoints in Assessing Treatment Outcomes in Rare Disease: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated Developmental Epileptic Encephalopathy.
Value Health
December 2024
FamilieSCN2A Foundation, E. Longmeadow, MA, USA; Decoding Developmental Epilepsies - DEE-P Connections; Washington, DC, USA; Northwestern Feinberg School of Medicine, Dept. Neurology, Chicago, IL, USA.
Objectives: For individuals living with rare neurodevelopmental disorders, especially those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes. Personalized endpoints such as Goal Attainment Scaling (GAS) allow the assessment of treatment response across variable baseline states and disease manifestations and thus provide a highly sensitive measure of efficacy. The current study tested the feasibility of using GAS in rare SCN2A-associated developmental and epileptic encephalopathy (SCN2A-DEE).
View Article and Find Full Text PDFRare dysfunctional SCN2A variants are associated with malformation of cortical development.
Epilepsia
December 2024
Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Objective: SCN2A encodes the voltage-gated sodium (Na+) channel α subunit Na1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.
View Article and Find Full Text PDFImprovement of variant reclassification in genetic neurodevelopmental conditions.
Genet Med Open
April 2024
Department of Pediatrics, Boston Children's Hospital, Boston, MA.
Purpose: Limited knowledge about disease mechanisms, few published cases, and the lack of functional assessment of variants for neurodevelopmental genetic disorders challenge diagnostic classification for variants and increase the frequency of variants of uncertain significance (VUS). Because inheritance patterns aid in variant interpretation for neurodevelopmental conditions, genetic testing including only the proband leads to larger numbers of VUS than testing strategies that include the parents.
Methods: We reinterpreted genetic variants submitted to the Simons Searchlight research registry using American College of Medical Genetics and Genomics variant interpretation guidelines, familial cascade testing, and literature curation with annual VUS reevaluation.
Editorial: Regulators of synapse formation: understanding the molecular mechanisms and its dysregulation in neurodevelopmental disorders.
Front Mol Neurosci
November 2024
Division of Gene Research, Research Center for Advanced Science and Technology, Shinshu University, Matsumoto, Japan.
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