Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge
both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) …

Episodic ataxia type 1 is a neuronal channelopathy caused by mutations in the KCNA1 gene
encoding the fast K + channel subunit K v 1.1. Episodic ataxia type 1 presents with brief …

Background and objective Heterozygous mutations in KCNA1 cause episodic ataxia type 1 (EA1),
an ion channel disorder characterised by brief paroxysms of cerebellar dysfunction …

Background Migraine is highly prevalent in women (18%). Peak morbidity affects their most
productive years, coinciding with peak fertility. Hormonal contraception is often tailored for …

We read with great interest the article by Cortese and colleagues (2020) describing 100
carriers of the RFC1 expansion. This study explores the phenotypic spectrum of RFC1 …

Clinical neurophysiology has become an invaluable tool in the diagnosis of muscle
channelopathies, but the situation is less clear cut with neuronal channelopathies. The genetic …

Benign familial neonatal epilepsy is a neuronal channelopathy most commonly caused by
mutations in KCNQ2, which encodes the K v 7.2 subunit of the slow K + channel. K v 7.2 is …

Objective To improve understanding of disease pathophysiology in anti-myelin-associated
glycoprotein (anti-MAG) neuropathy to guide further treatment approaches. Methods Anti-…

Background The myopathy associated with mutations in the nuclear-encoded mitochondrial
DNA maintenance gene POLG, coding for the catalytic subunit of DNA polymerase, is …

Ion channel dysfunction causes a range of neurological disorders by altering transmembrane
ion fluxes, neuronal or muscle excitability, and neurotransmitter release. Genetic neuronal …