Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.

Background And Objective: Heterozygous mutations in KCNA1 cause episodic ataxia type 1 (EA1), an ion channel disorder characterised by brief paroxysms of cerebellar dysfunction and persistent neuromyotonia. This paper describes four previously unreported families with EA1, with the aim of understanding the phenotypic spectrum associated with different mutations.

Methods: 15 affected individuals from four families underwent clinical, genetic and neurophysiological evaluation.

Fixation-off sensitivity in epilepsies other than the idiopathic epilepsies of childhood with occipital paroxysms: a 12-year clinical-video EEG study.

Purpose: To define the spectrum of the epileptic syndromes and epilepsies (other than the idiopathic epilepsies of childhood with occipital paroxysms) that can be associated with fixation-off sensitivity (FOS), delineate the electrographic types of FOS abnormalities and identify the patterns that can be associated with clinical seizures, and examine whether there may be a pure form of fixation-off sensitive epilepsy.

Methods: We reviewed the clinical and video EEG data of all our patients with FOS over the last 12 years. Children with idiopathic focal epilepsies and occipital EEG paroxysms were excluded.

Idiopathic generalized epilepsies: clinical and electroencephalogram diagnosis and treatment.

This review concentrates on the principles of the clinical and electroencephalogram diagnosis of idiopathic generalized epilepsies and their treatment. The electroclinical variability of the main seizure types is detailed and particular emphasis is placed on the differential diagnosis from other seizures and nonepileptic conditions that is essential for the optimal management of these patients. The authors review the various idiopathic generalized epilepsy subsyndromes and conditions that are included in both the 1989 International League Against Epilepsy classification system and the recently proposed International League Against Epilepsy scheme, but also syndromes and forms that have not been formally recognized.

Evidence for motor axon depolarization in Fabry disease.

To investigate the pathophysiology of neuropathy in Fabry disease, multiple nerve excitability properties of median motor axons in 20 patients with this disorder but without hyperkalemia were compared with 35 age-matched normal controls. In the patients, depolarizing threshold electrotonus was reduced (P < 0.0001) and superexcitability was reduced (P < 0.