Next-generation sequencing has identified mutations in the PRRT2 (proline-rich
transmembrane protein 2) gene as the leading cause for a wide and yet evolving spectrum …

Paroxysmal dyskinesia can be subdivided into three clinical syndromes: paroxysmal
kinesigenic dyskinesia or choreoathetosis, paroxysmal exercise-induced dyskinesia, and …

Summary The International League Against Epilepsy (ILAE) Classification of the Epilepsies
has been updated to reflect our gain in understanding of the epilepsies and their underlying …

Background Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures
(DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to …

Chromosome 16p11. 2 deletions and duplications are among the most frequent genetic
etiologies of autism spectrum disorder (ASD) and other neurodevelopmental disorders, but …

Recent advances in molecular genetics have translated into the increasing utilisation of
genetic testing in the routine clinical practice of neurologists. There has been a steady …

Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses.
They mediate the priming step that renders synaptic vesicles fusion-competent, and their …

In the past year, mutations in the PRRT2 gene have been identified in patients with
paroxysmal kinesigenic dyskinesia and other paroxysmal disorders. We conducted a review …

Heterozygous and rare homozygous mutations in PRoline-Rich Transmembrane protein 2
(PRRT2) underlie a group of paroxysmal disorders including epilepsy, kinesigenic …

Objective: We aimed to investigate the clinical and genetic features of paroxysmal
kinesigenic dyskinesia (PKD) in a large population and to analyze the genotype–phenotype …