The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …

Next-generation sequencing has catapulted healthcare into a revolutionary genomics era.
One such technology, whole-exome sequencing, which targets the protein-coding regions of …

Objective Benign familial infantile seizures (BFIS), paroxysmal kinesigenic dyskinesia
(PKD), and their combination—known as infantile convulsions and paroxysmal …

Heterozygous mutations in proline-rich transmembrane protein 2 (PRRT2) underlie a group
of paroxysmal disorders, including epilepsy, kinesigenic dyskinesia, and migraine. Most of …

In the past few years, proline-rich transmembrane protein (PRRT) 2 has been identified as
the causative gene for several paroxysmal neurological disorders. Recently, an important …

Therapeutic strategies in dystonia have evolved considerably in the past few decades.
Three major treatment modalities include oral medications, botulinum toxin injections and …

Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene cause a wide
spectrum of neurological diseases, ranging from paroxysmal kinesigenic dyskinesia (PKD) …

Proline-rich transmembrane protein 2 (PRRT2) has been identified as the single causative
gene for a group of paroxysmal syndromes of infancy, including epilepsy, paroxysmal …

Paroxysmal movement disorders comprise both paroxysmal dyskinesia, characterized by
attacks of dystonic and/or choreic movements, and episodic ataxia, defined by attacks of …

Several innovative and extremely powerful methods for sequencing nucleic acids (DNA and
RNA), collectively known as next‐generation sequencing technologies, have become …