Channelopathies,studies
- Mexiletine study: JAMA neurology research letter
- Archives of Neurology: Stridor expands the neonatal presentations of skeletal muscle sodium channelopathy
- Current Neurology and Neuroscience Reports: Novel Insights into the Pathomechanisms of Skeletal Muscle Channelopathies
- J Physiol: Muscle channelopathies does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis
- Neuromuscular Disorders: Muscle Channelopathies
- Journal of Medical Genetics: Large-scale calcium channel gene rearrangements in Episodic Ataxia and Hemiplegic Migraine
- Neurobiology: Non-genetic factors influence severity of episodic ataxia type 1 in monozygotic twins
- Neurobiology of Disease: Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause Episodic Ataxia type 2
- Neurology: Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype