[HTML][HTML] 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 …
Impact of predictive, preventive and precision medicine strategies in epilepsy
R Nabbout, M Kuchenbuch - Nature Reviews Neurology, 2020 - nature.com
Over the last decade, advances in genetics, neuroimaging and EEG have enabled the
aetiology of epilepsy to be identified earlier in the disease course than ever before. At the …
aetiology of epilepsy to be identified earlier in the disease course than ever before. At the …
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants
JD Symonds, KS Elliott, J Shetty, M Armstrong… - Brain, 2021 - academic.oup.com
Epilepsies of early childhood are frequently resistant to therapy and often associated with
cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene …
cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene …
[HTML][HTML] Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Background With the increasing number of genomic sequencing studies, hundreds of genes
have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery …
have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery …
Epilepsy and developmental disorders: Next generation sequencing in the clinic
JD Symonds, A McTague - European Journal of Paediatric Neurology, 2020 - Elsevier
Abstract Background The advent of Next Generation Sequencing (NGS) has led to a
redefining of the genetic landscape of the epilepsies. Hundreds of single gene epilepsies …
redefining of the genetic landscape of the epilepsies. Hundreds of single gene epilepsies …
Genetic testing to inform epilepsy treatment management from an international study of clinical practice
D McKnight, A Morales, KE Hatchell, SL Bristow… - JAMA …, 2022 - jamanetwork.com
Importance It is currently unknown how often and in which ways a genetic diagnosis given to
a patient with epilepsy is associated with clinical management and outcomes. Objective To …
a patient with epilepsy is associated with clinical management and outcomes. Objective To …
Phenotypic and genetic spectrum of SCN8A‐related disorders, treatment options, and outcomes
E Gardella, RS Møller - Epilepsia, 2019 - Wiley Online Library
Pathogenic variants in SCN 8A have originally been described in patients with
developmental and epileptic encephalopathy (DEE). However, recent studies have shown …
developmental and epileptic encephalopathy (DEE). However, recent studies have shown …
Multigene panel testing in a large cohort of adults with epilepsy: diagnostic yield and clinically actionable genetic findings
D McKnight, SL Bristow, RM Truty, A Morales… - Neurology …, 2021 - AAN Enterprises
Background and Objectives Although genetic testing among children with epilepsy has
demonstrated clinical utility and become a part of routine testing, studies in adults are …
demonstrated clinical utility and become a part of routine testing, studies in adults are …
Utility of genetic testing for therapeutic decision‐making in adults with epilepsy
KM Johannesen, N Nikanorova, D Marjanovic… - …, 2020 - Wiley Online Library
Objective Genetic testing has become a routine part of the diagnostic workup in children with
early onset epilepsies. In the present study, we sought to investigate a cohort of adult …
early onset epilepsies. In the present study, we sought to investigate a cohort of adult …
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with …
R Truty, N Patil, R Sankar, J Sullivan… - Epilepsia …, 2019 - Wiley Online Library
Objective Molecular genetic etiologies in epilepsy have become better understood in recent
years, creating important opportunities for precision medicine. Building on these advances …
years, creating important opportunities for precision medicine. Building on these advances …