The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that
may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral …

Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of
dystonia has rapidly grown in recent years, which led to the discovery of a number of novel …

Mutations in the GNAO1 gene cause a complex constellation of neurological disorders
including epilepsy, developmental delay, and movement disorders. GNAO1 encodes Gα o …

G protein-coupled receptors (GPCRs) transmit information to the cell interior by transducing
external signals to heterotrimeric G protein subunits, Gα and Gβγ subunits, localized on the …

Abstract Purpose of Review Since the advent of next-generation sequencing, the number of
genes associated with dystonia has been growing exponentially. We provide here a …

Cyclic adenosine monophosphate (cAMP) is a pivotal second messenger with an essential
role in neuronal function. cAMP synthesis by adenylyl cyclases (AC) is controlled by G …

Dystonia is a clinically, genetically, and biologically heterogeneous hyperkinetic movement
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …

Background Exacerbation of hyperkinesia is a life-threatening complication of dyskinetic
movement disorders, which can lead to multi-organ failure and even to death. GNAO1 has …

Epilepsy is a common neurological disorder affecting over 70 million people worldwide, with
a high rate of pharmaco-resistance, diverse comorbidities including progressive cognitive …

De novo germline mutations in GNB1 have been associated with a neurodevelopmental
phenotype. To date, 28 patients with variants classified as pathogenic have been reported …