Background Migraine is a complex neurovascular disorder with a strong genetic component.
There are rare monogenic forms of migraine, as well as more common polygenic forms; …

The hereditary ataxias are a highly heterogeneous group of disorders phenotypically
characterized by gait ataxia, incoordination of eye movements, speech, and hand …

Ion channel dysfunction is a key pathological substrate of episodic neurological disorders. A
classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for …

CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2),
with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia …

Background Calcium ions are involved in several human cellular processes including
corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between …

Migraine is a complex, debilitating neurovascular disorder, typically characterized by
recurring, incapacitating attacks of severe headache often accompanied by nausea and …

Objective Developmental epileptic encephalopathies (DEE s) are genetically
heterogeneous severe childhood‐onset epilepsies with developmental delay or cognitive …

The past two decades have witnessed the emergence of a new and expanding field of
neurological diseases—the genetic ion channelopathies. These disorders arise from …

Purpose To examine the impact of a targeted exome approach for the molecular diagnosis
of patients nationwide with a wide range of ataxia-related phenotypes. Methods One …

Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type
2, familial hemiplegic migraine, and spinocerebellar ataxia 6. With increasing use of clinical …