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

Migraine is a complex brain disorder explained by the interaction of genetic and
environmental factors. In monogenic migraines, including familial hemiplegic migraine and …

The epilepsies are common neurologic disorders characterized by spontaneous recurrent
seizures. Boys, girls, men, and women of all ages are affected by epilepsy and, in many …

Abstract See Lerche (doi: 10.1093/brain/awy073) for a scientific commentary on this article.
Proline-rich transmembrane protein 2 (PRRT2) is the causative gene for a heterogeneous …

Synaptopathies are a class of neurodevelopmental disorders caused by modification in
genes coding for synaptic proteins. These proteins oversee the process of …

Epilepsy affects 1% of the general population and 30% of patients are resistant to
antiepileptic drugs. Although optogenetics is an efficient antiepileptic strategy, the difficulty of …

The revolution in genetic technology has ushered in a new age for our understanding of the
underlying causes of neurodevelopmental, neuromuscular and neurodegenerative …

The activity‐dependent fusion, retrieval and recycling of synaptic vesicles is essential for the
maintenance of neurotransmission. Until relatively recently it was believed that most …

Mutations in the proline-rich transmembrane protein 2 (PRRT2) are associated with
paroxysmal kinesigenic dyskinesia (PKD) and several other paroxysmal neurological …

Background and Objective PRRT2 variants have been reported in a few cases of patients
with hemiplegic migraine. To clarify the role of PRRT2 in familial hemiplegic migraine, we …