Epilepsy-related voltage-gated sodium channelopathies: a review
LFS Menezes, EF Sabiá Júnior, DV Tibery… - Frontiers in …, 2020 - frontiersin.org
Epilepsy is a disease characterized by abnormal brain activity and a predisposition to
generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and …
generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and …
Clinical aspects of STAT3 gain-of-function germline mutations: a systematic review
Background Signal transducer and activator of transcription 3 (STAT3) gain-of-function
(GOF) germline mutations have been recently described. A comprehensive overview of this …
(GOF) germline mutations have been recently described. A comprehensive overview of this …
Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland
CF Wright, P Campbell, RY Eberhardt… - … England Journal of …, 2023 - Mass Medical Soc
Background Pediatric disorders include a range of highly penetrant, genetically
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
Epilepsy genetics: clinical impacts and biological insights
Genomics now has an increasingly important role in neurology clinics. Regarding the
epilepsies, innovations centred around technology, analytics, and collaboration have led to …
epilepsies, innovations centred around technology, analytics, and collaboration have led to …
Genetic landscape of common epilepsies: advancing towards precision in treatment
Epilepsy, a neurological disease characterized by recurrent seizures, is highly
heterogeneous in nature. Based on the prevalence, epilepsy is classified into two types …
heterogeneous in nature. Based on the prevalence, epilepsy is classified into two types …
Statistical validation of rare complement variants provides insights into the molecular basis of atypical hemolytic uremic syndrome and C3 glomerulopathy
Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are associated
with dysregulation and overactivation of the complement alternative pathway. Typically …
with dysregulation and overactivation of the complement alternative pathway. Typically …
Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond
SR Lamandé, JF Bateman - Matrix Biology, 2018 - Elsevier
Mutations in the three canonical collagen VI genes, COL6A1, COL6A2 and COL6A3, cause
a spectrum of muscle disease from Bethlem myopathy at the mild end to the severe Ullrich …
a spectrum of muscle disease from Bethlem myopathy at the mild end to the severe Ullrich …
Identification of misclassified ClinVar variants via disease population prevalence
There is a significant interest in the standardized classification of human genetic variants.
We used whole-genome sequence data from 10,495 unrelated individuals to contrast …
We used whole-genome sequence data from 10,495 unrelated individuals to contrast …
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy
KM Butler, OA Moody, E Schuler, J Coryell… - Brain, 2018 - academic.oup.com
GABAA receptors are ligand-gated anion channels that are important regulators of neuronal
inhibition. Mutations in several genes encoding receptor subunits have been identified in …
inhibition. Mutations in several genes encoding receptor subunits have been identified in …
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy
Introduction: Epileptic disorders are a heterogeneous group of medical conditions with
epilepsy as the common denominator. Genetic causes, electro-clinical features, and …
epilepsy as the common denominator. Genetic causes, electro-clinical features, and …