Altered perfusion with transient lack of oxygen supply to any central nervous system structure characterizes a transient ischemic attack. For example, migrainous auras are characterized by transient neurologic deficits associated with cortical spreading depression while epilepsy is caused by synchronous abnormal firing of a group of cortical neurons. This led to using descriptive but non-specific terms to classify disease, such as “faints,” “apoplexy,” or “convulsions.” Over time, improved understanding of the underlying physiological abnormality (or at least refinement of semiology) led to more precise nomenclature. Initially, neurological nosology relied on patient history or witnessed account from bystanders.

Neurologists frequently encounter patients with “attacks” with minimal or no abnormalities on the examination in-between spells. The concept of neurological diseases with episodic manifestations is not foreign to clinical practice. In the near future, it is likely that a growing number of genes will be described associating movement disorders and epilepsy, in parallel with improved understanding of disease mechanisms leading to more effective treatments. We discuss insights on the pathophysiology of select disorders and describe shared mechanisms that overlap treatment principles in some of these disorders. In this review, we discuss how these distinct phenotypes were constructed from a historical perspective and discuss how they are currently coalescing into established genetic etiologies with extensive pleiotropy, emphasizing clinical phenotyping important for diagnosis and for interpreting results from genetic testing.

In recent years, there has been renewed interest and recognition of these disorders and their intersection with epilepsy, at the molecular and pathophysiological levels.

Paroxysmal movement disorders include paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, paroxysmal exercise-induced dyskinesia, and episodic ataxias. 5Education Unit, University College London Institute of Neurology, University College London, London, United Kingdom.4Division of Pediatric Neurology and Developmental Medicine, Duke University Medical Center, Durham, NC, United States.3Department of Medicine, Universidade 9 de Julho, São Paulo, Brazil.2Department of Neurology, Universidade Estadual de Campinas (UNICAMP), São Paulo, Brazil.1Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.Mikati 4, Samantha Su 4 and Laura Silveira-Moriyama 2,3,5 de Gusmão 1,2 *, Lucas Garcia 3, Mohamad A.

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