Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …

Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …

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

Zebrafish are now widely accepted as a valuable animal model for a number of different
central nervous system (CNS) diseases. They are suitable both for elucidating the origin of …

Variants in CACNA1A are classically related to episodic ataxia type 2, familial hemiplegic
migraine type 1, and spinocerebellar ataxia type 6. Over the years, CACNA1A has been …

Developmental and epileptic encephalopathies (DEEs) can be primarily attributed to genetic
causes. The genetic landscape of DEEs has been largely shaped by the rise of high …

Paroxysmal movement disorders (PMDs) are rare neurological diseases typically
manifesting with intermittent attacks of abnormal involuntary movements. Two main …

In this review, we describe and discuss neurodevelopmental phenotypes arising from rare,
high penetrance genomic variants which directly influence synaptic vesicle cycling (SVC …

Primary episodic ataxias (EAs) are a group of dominantly inherited disorders characterized
by transient recurrent incoordination and truncal instability, often triggered by physical …