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 …

Understanding rare genetic brain disorders with overlapping neurological and psychiatric
phenotypes is of increasing importance given the potential for developing disease models …

CACNA1A pathogenic mutations are involved in various neurological phenotypes including
episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine …

Generalized epilepsy affects 24 million people globally; at least 25% of cases remain
medically refractory. The thalamus, with widespread connections throughout the brain, plays …

Background Genotype–phenotype correlations of the CACNA1A-related
neurodevelopmental disorders such as global developmental delay (GDD)/intellectual …

Voltage‐gated calcium channels (VGCC) are abundant in the central nervous system and
serve a broad spectrum of functions, either directly in cellular excitability or indirectly to …

Biological activities require a delicate balance between excitatory and inhibitory signals in
the brain. Disruption of this balance could lead to neurological disorders, such as …

Epilepsy affects more than 70 million individuals of all ages worldwide and remains one of
the most severe chronic noncommunicable neurological diseases globally. Several …

In many childhood-onset genetic epilepsies, seizures are accompanied by neurobehavioral
impairments and motor disability. In the Stargazer mutant mouse, genetic disruptions of …

Understanding the molecular mechanisms underlying the generation of absence seizures is
crucial for developing effective, patient-specific treatments for childhood absence epilepsy …