Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Objective Numerous genetic testing options for individuals with epilepsy have emerged over
the past decade without clear guidelines regarding optimal testing strategies. We performed …

The pharmacological treatment of epilepsy is purely symptomatic. Despite many decades of
intensive research, causal treatment of this common neurologic disorder is still unavailable …

Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel Kv1. 2,
have been identified as the cause for an evolving spectrum of neurological disorders …

Over 130 X-linked genes have been robustly associated with developmental disorders, and
X-linked causes have been hypothesised to underlie the higher developmental disorder …

Abstract AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors
(AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo-or …

Purpose Genetic studies in sudden infant death syndrome (SIDS) and sudden unexplained
death (SUD) cohorts have indicated that cardiovascular diseases might have contributed to …

Induced pluripotent stem cell (iPSC) and gene editing technologies have revolutionized the
field of in vitro disease modeling, granting us access to disease-pertinent human cells of the …

Neuropathic pain is a frequent feature of diabetic peripheral neuropathy (DPN) and small
fiber neuropathy (SFN). Resolving the genetic architecture of these painful neuropathies will …

Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic
plasticity. Pathogenic SYN1 variants are associated with variable X-linked …