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

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

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …

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 …

Purpose We aimed to gain insight into frequencies of genetic variants in genes implicated in
neurodevelopmental disorder with epilepsy (NDD+ E) by investigating large cohorts of …

Although there are many known Mendelian genes linked to epileptic or developmental and
epileptic encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we …

Epileptic encephalopathies are severe often intractable seizure disorders where epileptiform
abnormalities contribute to a progressive disturbance in brain function. Often, epileptic …

Epileptic encephalopathies (EEs) are the most clinically important group of severe early-
onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de …

Epilepsy is a common episodic neurological disorder or condition characterized by recurrent
epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies …

Purpose The management of epilepsy in children is particularly challenging when seizures
are resistant to antiepileptic medications, or undergo many changes in seizure type over …