Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any
of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on …

Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy,
comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with …

Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further …

Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of
severe epilepsies accompanied by intellectual disability and other neurodevelopmental …

Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known
about genetic differences between NDDs with and without epilepsy. We analyzed de novo …

Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant,
fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain …

Sequencing-based studies have identified novel risk genes associated with severe epilepsies
and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To …

Background We aimed for a comprehensive delineation of genetic, functional and phenotypic
aspects of GRIN2B encephalopathy and explored potential prospects of personalised …

… Anne Polvi,1,2,3 Tarja Linnankivi,4 Tero Kivelä,5 Riitta Herva,6 James P. Keating,7 Outi
Mäkitie,1,8 Davide Pareyson,9 Leena Vainionpää,10 Jenni Lahtinen,11 Iiris Hovatta,11,12 …

Objective Pathogenic SLC6A1 variants were recently described in patients with myoclonic
atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic …