Neurological disorders significantly outnumber diseases in other therapeutic areas.
However, develo** drugs for central nervous system (CNS) disorders remains the most …

Understanding the consequences of genotype for phenotype (which ranges from molecule-
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …

Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …

Brain voltage-gated sodium channel NaV1. 1 (SCN1A) loss-of-function variants cause the
severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic …

Accurate pathogenicity prediction of missense variants is critically important in genetic
studies and clinical diagnosis. Previously published prediction methods have facilitated the …

Current practice in diagnostic genetic testing of the epilepsies | Cairn.info Cairn.info, Matières
à réflexion Cairn.info, Matières à réflexion Aucune suggestion trouvée Compte personnel …

Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …

Partial or complete loss-of-function variants in SCN5A are the most common genetic cause
of the arrhythmia disorder Brugada syndrome (BrS1). However, the pathogenicity of SCN5A …

Interpretation of the colossal number of genetic variants identified from sequencing
applications is one of the major bottlenecks in clinical genetics, with the inference of the …